9139 <1 / 1 000 000
7402 1-9 / 1 000 000
5625 Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity.
4084 1-5 / 10 000
1981 http://www.ncbi.nlm.nih.gov/books/NBK1247/
19521 1-9 / 100 000
1184 1:3200
1184 1 in 2000-4000 depending on the population studied.
598 2.29 to 3.2 per 100,000 individuals
457 1:3,000
382 >1 / 1000
335 Rett syndrome is an X linked condition that occurs in 1 in 10,000 to 1 in 15,000 live births.
273 Cornelia de Lange syndrome occurs in 1 in 10-100,000 live births.
273 CdLS occurs in 1 in 10-100,000 live births.
226 1 per million
211 Sotos syndrome occurs in 1 in 14,000 live births.
211 Sotos syndrome is an autosomal dominant condition that occurs in 1 in 14,000 live births.
198 1 in 5,000 male live births
188 The prevalence of MEN 2 has been estimated at 1:35,000 [DeLellis et al 2004].
188 1/35000
174 The prevalence of AS is one in 12,000-20,000 population.
174 The prevalence of AS is one in 12,000-20,000 population
150 Occurs in 1 in approximately 32,000 live births
...
disease mechanism:
13% of variants have this populated.
287 genes have 'loss of function' variants and 42 genes have 'gain of function'
18052 loss of function
762 Disease mechanisms vary by gene.
681 gain of function
155 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function
34 Affects gamma-sarcoglycan and also disrupts the integrity of the entire sarcoglycan complex.
18 May be benign
17 unknown
12 Other
2 gain of function;loss of function
2 Disease mechanisms vary by gene.;loss of function
1 Dominant Negative
Added new fields from
ClinVarFullRelease_00-latest.xml.gz
:Also removed the uncompressed version of
clinvar.tsv
since it now exceeds github's 100Mb limit.Examples:
Example rows with the new columns.
Example 1:
Example 2:
Distributions of values:
Each value, along with the number of times it occurs in the Sept. 1, 2016 release.
inhertiance_modes
: 19% of variants have this populatedage_of_onset
:prevalence
:disease mechanism
: 13% of variants have this populated. 287 genes have 'loss of function' variants and 42 genes have 'gain of function'