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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HGVS dbSNP
NM_000059.3(BRCA2):c.3860delA (p.Asn1287Ilefs) rs80359406
NM_000059.3(BRCA2):c.5609_5610delTCinsAG (p.Phe1870Ter) rs276174859
NM_000535.5(PMS2):c.746_753delACTCCGTG (p.Asp249Valfs) rs587782710
NM_005591.3(MRE11):c.1960_1979dup20 (p.Lys661Thrfs) rs587781442
NM_024675.3(PALB2):c.226delA (p.Ile76Tyrfs) rs587782443
NM_024675.3(PALB2):c.2931dupA (p.Val978Serfs) rs587782570

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