ClinVar Miner

List of variants in gene SMC1A reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 15
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HGVS dbSNP
NM_001281463.1(SMC1A):c.1409A>G (p.Gln470Arg) rs1556890139
NM_001281463.1(SMC1A):c.1806T>G (p.Asp602Glu) rs1369059288
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr) rs387906702
NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=) rs374246357
NM_001281463.1(SMC1A):c.345+6C>T rs782515915
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=)
NM_006306.4(SMC1A):c.2643G>A (p.Lys881=) rs1602405773
NM_006306.4(SMC1A):c.2647G>A (p.Glu883Lys)
NM_006306.4(SMC1A):c.2863-8C>T rs782738954
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr)
NM_006306.4(SMC1A):c.3135T>C (p.Phe1045=) rs1602398671
NM_006306.4(SMC1A):c.3371C>T (p.Pro1124Leu) rs1602398439
NM_006306.4(SMC1A):c.381C>T (p.Leu127=)
NM_006306.4(SMC1A):c.52_53del (p.Arg18fs) rs1602418853
NM_006306.4(SMC1A):c.793_795del (p.Glu265del) rs1602413408

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