ClinVar Miner

List of variants reported as uncertain significance for breast-ovarian cancer, familial, susceptibility to, 1 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_007294.4(BRCA1):c.118G>A (p.Asp40Asn) rs879255290
NM_007294.4(BRCA1):c.1884T>G (p.Ser628Arg) rs80357495
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del) rs80358337
NM_007294.4(BRCA1):c.5275_5276delinsTG (p.Lys1759Trp) rs786204116
NM_007294.4(BRCA1):c.5371G>T (p.Val1791Leu) rs145758886
NM_007294.4(BRCA1):c.580G>A (p.Ala194Thr) rs2154521204

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