ClinVar Miner

List of variants studied for Hereditary breast ovarian cancer syndrome; Familial pancreatic carcinoma by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00003
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser) rs80357113 0.00002
NM_024675.4(PALB2):c.1191A>G (p.Thr397=) rs1597096781 0.00002
NM_000059.4(BRCA2):c.7676C>G (p.Ser2559Cys) rs1060502421 0.00001
NM_007294.4(BRCA1):c.4679G>T (p.Gly1560Val) rs564757581 0.00001
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286 0.00001
NM_000059.4(BRCA2):c.3491_3493del (p.Leu1164del) rs1555283265
NM_000059.4(BRCA2):c.5879GTA[1] (p.Ser1961del) rs1026127409
NM_007294.4(BRCA1):c.1983G>A (p.Arg661=) rs869320788
NM_007294.4(BRCA1):c.2001A>G (p.Gln667=) rs878854937
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.4(BRCA1):c.3341AAG[1] (p.Glu1115del) rs80358336
NM_007294.4(BRCA1):c.3941A>T (p.Asp1314Val) rs759916956
NM_007294.4(BRCA1):c.3948C>T (p.Phe1316=) rs2154275470
NM_007294.4(BRCA1):c.4085dup (p.Asp1362fs) rs2053470202
NM_007294.4(BRCA1):c.4811A>G (p.Gln1604Arg) rs80357439
NM_007294.4(BRCA1):c.5278_5592del315 (p.Ile1760_Ter1864del)
NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly) rs587776527

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