List of variants reported as pathogenic for breast-ovarian cancer, familial, susceptibility to, 1 by OMIM

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Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	rs28897672	0.00004
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)	rs80357064	0.00001
NM_007294.4(BRCA1):c.213-11T>G	rs80358061	0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)	rs62625308	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)	rs41293463	0.00001
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)	rs80357629	0.00001
BRCA1, 6-KB DUP, EX13
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)	rs80357569
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)	rs80359874
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)	rs80357662
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)	rs80357382
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer)	rs80357780
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)	rs62625306
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)	rs80357971
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter)	rs1555589094
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer)	rs80357540
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs)	rs80357601
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)	rs80357856
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)	rs80357877
NM_007294.4(BRCA1):c.3626del (p.Lys1208_Leu1209insTer)	rs80357571
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)	rs28897686
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	rs80357868
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)	rs80357579
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)	rs80357711
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	rs80357508
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)	rs41293455
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	rs41293455
NM_007294.4(BRCA1):c.4966_4984del (p.Gly1656fs)	rs80359884
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	rs55770810
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)	rs45553935
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)	rs80357823
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)	rs41293463
NM_007294.4(BRCA1):c.594_597delTGTG	rs797045175
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	rs80357914
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)	rs387906563
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)	rs80357919

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