ClinVar Miner

List of variants in gene SMC1A studied for Inborn genetic diseases

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Total variants: 9
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HGVS dbSNP
NM_006306.3(SMC1A):c.1609del (p.Val537fs) rs1556889640
NM_006306.3(SMC1A):c.1990del (p.Arg664fs) rs1556889534
NM_006306.3(SMC1A):c.2038C>T (p.Arg680Cys) rs1556889524
NM_006306.3(SMC1A):c.2329T>C (p.Phe777Leu) rs1556889236
NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.3(SMC1A):c.3196C>T (p.Arg1066Cys) rs797044896
NM_006306.3(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006306.3(SMC1A):c.3497A>G (p.Asn1166Ser) rs1556885810
NM_006306.3(SMC1A):c.3578T>G (p.Phe1193Cys) rs869312954

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