ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability, autosomal dominant 16 by Revvity Omics, Revvity

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_003072.5(SMARCA4):c.104C>T (p.Ser35Leu) rs563079629 0.00006
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met) rs377119410 0.00005
NM_001387283.1(SMARCA4):c.4187A>T (p.Asp1396Val) rs186823009 0.00003
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln) rs143950084 0.00003
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln) rs1050237 0.00002
NM_003072.5(SMARCA4):c.4916G>A (p.Arg1639His) rs867536416 0.00002
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser) rs372319442 0.00001
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del) rs1429065030
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His) rs1060502060
NM_003072.5(SMARCA4):c.4258G>A (p.Gly1420Ser) rs772153816
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu) rs374983142

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