ClinVar Miner

List of variants in gene SMARCA2 reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.2852A>G (p.Lys951Arg) rs1821908356
NM_003070.5(SMARCA2):c.3230C>G (p.Ser1077Cys) rs1822649784
NM_003070.5(SMARCA2):c.3252T>A (p.Asp1084Glu) rs1822650605
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His) rs281875197
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3505G>T (p.Val1169Phe) rs2130599641
NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro) rs1823198138
NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met) rs2130626814
NM_003070.5(SMARCA2):c.4414A>C (p.Met1472Leu) rs752298477
NM_003070.5(SMARCA2):c.4461+3C>G rs1827087118
NM_003070.5(SMARCA2):c.669GCA[19] (p.Gln233_Gln238dup) rs113070757

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