ClinVar Miner

List of variants in gene SMC1A reported as pathogenic by GeneDx

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Total variants: 10
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NM_001281463.1(SMC1A):c.1126C>T (p.Arg376Ter) rs886041902
NM_001281463.1(SMC1A):c.1438G>A (p.Glu480Lys) rs1057522040
NM_001281463.1(SMC1A):c.2206C>T (p.Arg736Ter) rs1556889269
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr) rs387906702
NM_001281463.1(SMC1A):c.2703dup (p.Ser902fs) rs1556888010
NM_001281463.1(SMC1A):c.2807del (p.Gln936fs) rs1556887777
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
NM_001281463.1(SMC1A):c.556C>G (p.Arg186Gly) rs1057520375
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.793_795del (p.Glu265del) rs1602413408

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