ClinVar Miner

List of variants in gene SMARCA4 reported as not provided by ITMI

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.2617-86G>A rs75904516 0.05087
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441 0.00291
NM_003072.5(SMARCA4):c.*1G>T rs76118382 0.00205
NM_003072.5(SMARCA4):c.2617-110G>A rs564402674 0.00203
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502 0.00116
NM_001387283.1(SMARCA4):c.4211T>G (p.Val1404Gly) rs200469979 0.00010
NM_003072.5(SMARCA4):c.602A>T (p.Gln201Leu) rs587778682 0.00009
NM_001387283.1(SMARCA4):c.4216C>T (p.Arg1406Cys) rs587778686 0.00001
NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val) rs587778680 0.00001
NM_003072.5(SMARCA4):c.3841G>A (p.Val1281Ile) rs587778685 0.00001
NM_003072.5(SMARCA4):c.4291C>T (p.Arg1431Cys) rs587778681 0.00001
NM_003072.5(SMARCA4):c.4546A>G (p.Asn1516Asp) rs587778684 0.00001
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu) rs587778683 0.00001
NM_003072.5(SMARCA4):c.2617-224T>C rs587777971
NM_003072.5(SMARCA4):c.3546+16G>A rs587777972
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760

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