ClinVar Miner

List of variants in gene SMC1A reported by Ambry Genetics

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Total variants: 27
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HGVS dbSNP
NM_001281463.1(SMC1A):c.*14C>T rs112727682
NM_001281463.1(SMC1A):c.1107G>A (p.Gln369=) rs147952638
NM_001281463.1(SMC1A):c.1188+4G>A
NM_001281463.1(SMC1A):c.1257C>T (p.Tyr419=) rs144850468
NM_001281463.1(SMC1A):c.1479+4A>C rs377270943
NM_001281463.1(SMC1A):c.1482C>T (p.Tyr494=)
NM_001281463.1(SMC1A):c.1543del (p.Val515fs) rs1556889640
NM_001281463.1(SMC1A):c.1632G>A (p.Glu544=) rs7052858
NM_001281463.1(SMC1A):c.1692G>T (p.Arg564=)
NM_001281463.1(SMC1A):c.1924del (p.Arg642fs) rs1556889534
NM_001281463.1(SMC1A):c.1972C>T (p.Arg658Cys) rs1556889524
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_001281463.1(SMC1A):c.2263T>C (p.Phe755Leu) rs1556889236
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr) rs387906702
NM_001281463.1(SMC1A):c.2580G>A (p.Ser860=) rs1193658492
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001281463.1(SMC1A):c.2884G>A (p.Gly962Ser) rs782381563
NM_001281463.1(SMC1A):c.3130C>T (p.Arg1044Cys) rs797044896
NM_001281463.1(SMC1A):c.3131G>A (p.Arg1044His) rs1556886034
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=) rs142611198
NM_001281463.1(SMC1A):c.3431A>G (p.Asn1144Ser) rs1556885810
NM_001281463.1(SMC1A):c.347G>A (p.Gly116Asp) rs1569359134
NM_001281463.1(SMC1A):c.3512T>G (p.Phe1171Cys) rs869312954
NM_001281463.1(SMC1A):c.3572G>A (p.Ser1191Asn) rs1569351352
NM_001281463.1(SMC1A):c.3626A>G (p.Asn1209Ser)
NM_001281463.1(SMC1A):c.633G>A (p.Val211=) rs145319852
NM_001281463.1(SMC1A):c.768G>A (p.Gln256=) rs1569358988

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