ClinVar Miner

List of variants in gene SMC1A reported as likely pathogenic for not provided

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Total variants: 12
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HGVS dbSNP
NM_001281463.1(SMC1A):c.1768G>A (p.Ala590Thr) rs727504164
NM_006306.3(SMC1A):c.1279G>A (p.Glu427Lys) rs886044851
NM_006306.3(SMC1A):c.1475A>G (p.Gln492Arg) rs1556890139
NM_006306.3(SMC1A):c.1495C>T (p.Arg499Ter) rs1556890135
NM_006306.3(SMC1A):c.2447G>A (p.Arg816His) rs886044819
NM_006306.3(SMC1A):c.287G>C (p.Arg96Pro)
NM_006306.3(SMC1A):c.311A>G (p.Glu104Gly) rs1556891059
NM_006306.3(SMC1A):c.3178G>A (p.Glu1060Lys) rs1057521921
NM_006306.3(SMC1A):c.3342C>A (p.Asn1114Lys) rs1057518054
NM_006306.3(SMC1A):c.3568A>G (p.Lys1190Glu) rs1057524798
NM_006306.3(SMC1A):c.615+5G>A rs1064795049
NM_006306.3(SMC1A):c.855-2A>G rs1569358774

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