ClinVar Miner

List of variants in gene BARD1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 33
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HGVS dbSNP gnomAD frequency
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.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776 0.00021
NM_000465.4(BARD1):c.57G>A (p.Glu19=) rs730881406 0.00019
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser) rs138593305 0.00013
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976 0.00008
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln) rs753479021 0.00006
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00004
NM_000465.4(BARD1):c.253G>T (p.Val85Leu) rs370359540 0.00004
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000465.4(BARD1):c.212G>T (p.Cys71Phe) rs1064793959 0.00003
NM_000465.4(BARD1):c.1194A>G (p.Thr398=) rs781482219 0.00002
NM_000465.4(BARD1):c.1317C>T (p.Gly439=) rs369986649 0.00001
NM_000465.4(BARD1):c.514G>A (p.Asp172Asn) rs759732945 0.00001
NM_000465.4(BARD1):c.965G>A (p.Arg322His) rs774251286 0.00001
GRCh37/hg19 2q35(chr2:215560030-215650764)x1
GRCh37/hg19 2q35(chr2:215593400-215646233)x1
GRCh37/hg19 2q35(chr2:215632206-215634036)x1
NM_000465.4(BARD1):c.117C>T (p.Ala39=) rs786202271
NM_000465.4(BARD1):c.1315-1G>A rs1694367021
NM_000465.4(BARD1):c.1463A>G (p.Asn488Ser) rs1057518894
NM_000465.4(BARD1):c.1479A>G (p.Gln493=) rs375029767
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile) rs376256852
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.1903+1G>A rs876660237
NM_000465.4(BARD1):c.1914A>G (p.Ala638=) rs876658489
NM_000465.4(BARD1):c.2002-2A>G rs876658260
NM_000465.4(BARD1):c.2163A>G (p.Ala721=) rs786202805
NM_000465.4(BARD1):c.2195T>G (p.Phe732Cys) rs760201905

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