ClinVar Miner

List of variants studied for breast-ovarian cancer, familial, susceptibility to, 4 by Mendelics

Included ClinVar conditions (1):
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_017559.4(FNDC8):c.121A>G (p.Met41Val) rs149433213 0.00139
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_002878.4(RAD51D):c.263+1509C>T rs201506572 0.00116
NM_002878.4(RAD51D):c.263+1605G>A rs147933658 0.00023
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile) rs138969595 0.00021
NM_002878.4(RAD51D):c.39C>G (p.Thr13=) rs146448657 0.00018
NM_002878.4(RAD51D):c.904-3C>T rs45478491 0.00018
NM_002878.4(RAD51D):c.263+1641C>T rs142387263 0.00006
NM_002878.4(RAD51D):c.263+7G>A rs56218020 0.00006
NM_002878.4(RAD51D):c.957G>A (p.Gln319=) rs147669627 0.00006
NM_002878.4(RAD51D):c.-126C>T rs781135655 0.00005
NM_002878.4(RAD51D):c.793G>A (p.Gly265Arg) rs140285068 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_002878.4(RAD51D):c.839C>G (p.Thr280Ser) rs548111162 0.00004
NM_002878.4(RAD51D):c.481-8C>T rs762247126 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_002878.4(RAD51D):c.83-37C>A rs763129236 0.00003
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_002878.4(RAD51D):c.263+1585C>G rs1192914615 0.00001
NM_002878.4(RAD51D):c.70A>G (p.Arg24Gly) rs781611267 0.00001
NM_002878.4(RAD51D):c.862G>C (p.Gly288Arg) rs1391505912 0.00001
NM_002878.4(RAD51D):c.900A>G (p.Arg300=) rs370634278 0.00001
NM_002878.4(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.4(RAD51D):c.263+1551G>T rs780006577
NM_002878.4(RAD51D):c.263+1644T>C rs1597874516
NM_002878.4(RAD51D):c.475del (p.Glu159fs) rs1597862493
NM_002878.4(RAD51D):c.480+4A>G rs1567728211
NM_002878.4(RAD51D):c.667+2_667+23del rs1597858626
NM_002878.4(RAD51D):c.83-4T>A rs1567735916
NM_002878.4(RAD51D):c.844G>A (p.Glu282Lys) rs1447892901

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