ClinVar Miner

List of variants reported as likely pathogenic for Familial cancer of breast by BRCAlab, Lund University

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.1799_1802+5del rs781244480
NM_000051.4(ATM):c.4910-1G>T rs1060501706
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.8010+1del rs876659350
NM_007194.4(CHEK2):c.1009-2A>G rs766158073
NM_007194.4(CHEK2):c.1543-2A>C rs1160973224
NM_007194.4(CHEK2):c.592+2T>C rs1601822717
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641

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