ClinVar Miner

List of variants in gene SMC1A reported by GeneDx

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Total variants: 17
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HGVS dbSNP
NM_001281463.1(SMC1A):c.1126C>T (p.Arg376Ter) rs886041902
NM_001281463.1(SMC1A):c.1429C>T (p.Arg477Ter) rs1556890135
NM_001281463.1(SMC1A):c.1438G>A (p.Glu480Lys) rs1057522040
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
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.245A>G (p.Glu82Gly) rs1556891059
NM_001281463.1(SMC1A):c.2703dup (p.Ser902fs) rs1556888010
NM_001281463.1(SMC1A):c.2787_2790del (p.Ser929fs) rs863225458
NM_001281463.1(SMC1A):c.2807del (p.Gln936fs) rs1556887777
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
NM_001281463.1(SMC1A):c.3112G>A (p.Glu1038Lys) rs1057521921
NM_001281463.1(SMC1A):c.3158A>G (p.Glu1053Gly) rs1556886027
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.556C>G (p.Arg186Gly) rs1057520375

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