ClinVar Miner

List of variants in gene SMARCA4 reported as pathogenic by OMIM

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Total variants: 12
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HGVS dbSNP
NM_001128845.1(SMARCA4):c.2617-3C>G rs587777463
NM_001128845.1(SMARCA4):c.4071+1G>A rs587777461
NM_001128849.1(SMARCA4):c.3239G>A (p.Gly1080Asp) rs587777464
NM_001128849.1(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_001128849.1(SMARCA4):c.643C>T (p.Gln215Ter) rs587777462
NM_003072.3(SMARCA4):c.1636_1638del (p.Lys546del) rs876657378
NM_003072.3(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.3(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.3(SMARCA4):c.2761C>T (p.Leu921Phe) rs281875228
NM_003072.3(SMARCA4):c.3032T>C (p.Met1011Thr) rs281875229
NM_003072.3(SMARCA4):c.3469C>G (p.Arg1157Gly) rs281875230
NM_003072.3(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460

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