ClinVar Miner

List of variants in gene BARD1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.1518T>C (p.His506=) rs2070093 0.74904
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser) rs2229571 0.53291
NM_000465.4(BARD1):c.70C>T (p.Pro24Ser) rs1048108 0.32854
NM_000465.4(BARD1):c.1053G>C (p.Thr351=) rs2070096 0.19573
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_000465.4(BARD1):c.609A>C (p.Gly203=) rs28997574 0.00787
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00455
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152 0.00088
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr) rs587780030 0.00004
NM_000465.4(BARD1):c.1226C>G (p.Ser409Cys) rs786202226 0.00001
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.117C>T (p.Ala39=) rs786202271
NM_000465.4(BARD1):c.1519G>A (p.Val507Met) rs2070094
NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter)
NM_000465.4(BARD1):c.216-9A>T rs759575504

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