ClinVar Miner

List of variants in gene BARD1 reported as pathogenic for Malignant tumor of breast

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00004
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) rs758972589 0.00001
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter) rs730881411 0.00001
NC_000002.11:g.(?_215590369)_(215617280_215632205)del
NM_000465.4(BARD1):c.1569-1_1677+2del rs2106038518
NM_000465.4(BARD1):c.176_177del (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1904-502_*2del
NM_000465.4(BARD1):c.3G>A (p.Met1Ile) rs587780031
NM_000465.4(BARD1):c.623del (p.Lys208fs)
NM_000465.4(BARD1):c.627_628del (p.Lys209fs) rs864622223
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer) rs1482641121

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