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

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Total variants: 28

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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.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer)	rs1597911705
NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs)	rs80357597
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)	rs80357714
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)	rs80357086
NM_007294.4(BRCA1):c.1962dup (p.Tyr655fs)	rs1567797549
NM_007294.4(BRCA1):c.2037_2038insC (p.Lys680fs)	rs1597872557
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs)	rs80357871
NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter)	rs80357444
NM_007294.4(BRCA1):c.2960dup (p.Ser988fs)	rs886040088
NM_007294.4(BRCA1):c.3068del (p.Val1023fs)	rs1567793053
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)	rs80357701
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)	rs80357609
NM_007294.4(BRCA1):c.4152_4153del (p.Leu1385fs)	rs1567788338
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)	rs80357260
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)	rs80357389
NM_007294.4(BRCA1):c.4736_4739del (p.Pro1579fs)	rs1555581017
NM_007294.4(BRCA1):c.4944_4945insTTTT (p.Arg1649delinsPheTer)	rs1597830446
NM_007294.4(BRCA1):c.4946_4948del (p.Arg1649del)	rs1597830403
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)	rs80358344
NM_007294.4(BRCA1):c.5074+2T>C	rs80358089
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter)	rs879255319
NM_007294.4(BRCA1):c.689_692del (p.Glu230fs)	rs886040308
NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter)	rs886040313
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)	rs80357724
NM_007294.4(BRCA1):c.958A>T (p.Arg320Ter)	rs1131692065

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