ClinVar Miner

List of variants in gene BARD1 reported by Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

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Total variants: 24
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HGVS dbSNP gnomAD frequency
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.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000465.4(BARD1):c.1693C>T (p.Arg565Cys) rs587782279 0.00002
NM_000465.4(BARD1):c.1757G>T (p.Ser586Ile) rs369756202 0.00001
NM_000465.4(BARD1):c.1904-10T>G rs768259863 0.00001
NM_000465.4(BARD1):c.1904-12T>G rs774178253 0.00001
NM_000465.4(BARD1):c.490C>G (p.Gln164Glu) rs750350372 0.00001
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys) rs587780032 0.00001
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1231C>T (p.Pro411Ser) rs786203825
NM_000465.4(BARD1):c.1314+5G>T rs868089048
NM_000465.4(BARD1):c.136A>G (p.Lys46Glu) rs1426560516
NM_000465.4(BARD1):c.1569-1G>C rs1574756672
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1603G>C (p.Asp535His) rs1693505731
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter) rs777937955
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.2150T>A (p.Ile717Asn) rs876658526
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys) rs777013688
NM_000465.4(BARD1):c.950_957delinsG (p.Glu317fs)

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