ClinVar Miner

List of variants in gene SMARCA4 studied for Global developmental delay

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.1615C>G (p.Arg539Gly) rs2087029320
NM_003072.5(SMARCA4):c.1694C>T (p.Thr565Met) rs1600082359
NM_003072.5(SMARCA4):c.4141G>A (p.Asp1381Asn) rs2075186524
NM_003072.5(SMARCA4):c.606G>A (p.Met202Ile) rs2086039435

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