ClinVar Miner

List of variants reported as pathogenic for BAP1-related tumor predisposition syndrome by Ambry Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000059.3(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.3(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_005590.4(MRE11):c.1876_1895dup (p.Lys633fs) rs587781442
NM_024675.3(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.3(PALB2):c.2931dup (p.Val978fs) rs587782570

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