ClinVar Miner

List of variants in gene SMC1A reported as likely pathogenic by GeneDx

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Total variants: 6
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NM_006306.3(SMC1A):c.1495C>T (p.Arg499Ter) rs1556890135
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

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