ClinVar Miner

List of variants in gene SMC1A reported as pathogenic by OMIM

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Total variants: 15
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NM_001281463.1(SMC1A):c.1412A>C (p.Glu471Ala) rs122454122
NM_001281463.1(SMC1A):c.1421G>A (p.Arg474His) rs122454123
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr) rs387906702
NM_006306.4(SMC1A):c.2197G>T (p.Glu733Ter)
NM_006306.4(SMC1A):c.2364del (p.Asn788fs)
NM_006306.4(SMC1A):c.2394del (p.Lys798fs)
NM_006306.4(SMC1A):c.2477del (p.Asn826fs)
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu) rs1602407457
NM_006306.4(SMC1A):c.2683C>G (p.Arg895Gly)
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter)
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) rs863225459
SMC1A, 15-BP DEL, NT173
SMC1A, 8.152-KB DEL

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