ClinVar Miner

List of variants in gene SMC1A reported by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 17
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NM_001281463.1(SMC1A):c.-213C>T rs797044618
NM_001281463.1(SMC1A):c.-231C>T rs1264011
NM_001281463.1(SMC1A):c.1180G>A (p.Glu394Lys) rs886044873
NM_001281463.1(SMC1A):c.1213G>A (p.Glu405Lys) rs886044851
NM_001281463.1(SMC1A):c.1257C>T (p.Tyr419=) rs144850468
NM_001281463.1(SMC1A):c.1298T>C (p.Leu433Pro) rs886044858
NM_001281463.1(SMC1A):c.1479+4A>C rs377270943
NM_001281463.1(SMC1A):c.1768G>A (p.Ala590Thr) rs727504164
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_001281463.1(SMC1A):c.221G>C (p.Arg74Pro) rs781817340
NM_001281463.1(SMC1A):c.2381G>A (p.Arg794His) rs886044819
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.633G>A (p.Val211=) rs145319852
NM_001281463.1(SMC1A):c.795G>A (p.Lys265=) rs782543093

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