ClinVar Miner

List of variants in gene SMC1A reported as benign for Congenital muscular hypertrophy-cerebral syndrome

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Total variants: 25
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HGVS dbSNP
NM_001281463.1(SMC1A):c.*1239T>C rs782502306
NM_001281463.1(SMC1A):c.*2423G>A rs147324052
NM_001281463.1(SMC1A):c.*2856A>T rs148128199
NM_001281463.1(SMC1A):c.*3421G>T rs41304780
NM_001281463.1(SMC1A):c.*3851A>T rs782817464
NM_001281463.1(SMC1A):c.*5016T>C rs17002602
NM_001281463.1(SMC1A):c.*5444G>A rs181871602
NM_001281463.1(SMC1A):c.*5481G>A rs147896900
NM_001281463.1(SMC1A):c.1107G>A (p.Gln369=) rs147952638
NM_001281463.1(SMC1A):c.1188+11G>C rs144354524
NM_001281463.1(SMC1A):c.1257C>T (p.Tyr419=) rs144850468
NM_001281463.1(SMC1A):c.1479+4A>C rs377270943
NM_001281463.1(SMC1A):c.1632G>A (p.Glu544=) rs7052858
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=) rs142611198
NM_001281463.1(SMC1A):c.346-10C>T rs149219651
NM_001281463.1(SMC1A):c.3525C>T (p.Ala1175=) rs146216425
NM_001281463.1(SMC1A):c.550-6G>A rs587784424
NM_001281463.1(SMC1A):c.633G>A (p.Val211=) rs145319852
NM_006306.4(SMC1A):c.*1542T>C
NM_006306.4(SMC1A):c.*2389G>T
NM_006306.4(SMC1A):c.*4887T>C
NM_006306.4(SMC1A):c.*931A>G
NM_006306.4(SMC1A):c.3438-7C>T rs782796392

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