ClinVar Miner

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

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Total variants: 14
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NM_001281463.1(SMC1A):c.1213G>A (p.Glu405Lys) rs886044851
NM_001281463.1(SMC1A):c.1409A>G (p.Gln470Arg) rs1556890139
NM_001281463.1(SMC1A):c.1429C>T (p.Arg477Ter) rs1556890135
NM_001281463.1(SMC1A):c.1768G>A (p.Ala590Thr) rs727504164
NM_001281463.1(SMC1A):c.221G>C (p.Arg74Pro) rs781817340
NM_001281463.1(SMC1A):c.2354G>A (p.Arg785His) rs1569356550
NM_001281463.1(SMC1A):c.2381G>A (p.Arg794His) rs886044819
NM_001281463.1(SMC1A):c.245A>G (p.Glu82Gly) rs1556891059
NM_001281463.1(SMC1A):c.3112G>A (p.Glu1038Lys) rs1057521921
NM_001281463.1(SMC1A):c.3276C>A (p.Asn1092Lys) rs1057518054
NM_001281463.1(SMC1A):c.3502A>G (p.Lys1168Glu) rs1057524798
NM_001281463.1(SMC1A):c.549+5G>A rs1064795049
NM_001281463.1(SMC1A):c.789-2A>G rs1569358774
NM_006306.4(SMC1A):c.52_53del (p.Arg18fs) rs1602418853

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