ClinVar Miner

List of variants studied for Breast-ovarian cancer, familial, susceptibility to, 4 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.494G>A (p.Arg165Gln) rs4796033 0.12119
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01092
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00423
NM_002878.4(RAD51D):c.873C>T (p.Arg291=) rs140848654 0.00368
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00154
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_002878.4(RAD51D):c.263+1509C>T rs201506572 0.00116
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) rs201676898 0.00025
NM_002878.4(RAD51D):c.263+1605G>A rs147933658 0.00024
NM_002878.4(RAD51D):c.263+1474C>T rs201720876 0.00016
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp) rs770250516 0.00006
NM_002878.4(RAD51D):c.263+1610C>T rs767039876 0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00003
NM_002878.4(RAD51D):c.161G>T (p.Arg54Met) rs876658172 0.00001
NM_002878.4(RAD51D):c.38C>T (p.Thr13Ile) rs1064795830 0.00001
NM_002878.4(RAD51D):c.224T>C (p.Leu75Pro) rs2142473963
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter) rs786202434
NM_002878.4(RAD51D):c.412A>C (p.Asn138His) rs141690729
NM_002878.4(RAD51D):c.623dup (p.Thr209fs) rs1555567610

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