ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_001281463.1(SMC1A):c.1768G>A (p.Ala590Thr) rs727504164
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_006306.3(SMC1A):c.-19C>T rs1264011
NM_006306.3(SMC1A):c.-1C>T rs797044618
NM_006306.3(SMC1A):c.1246G>A (p.Glu416Lys) rs886044873
NM_006306.3(SMC1A):c.1279G>A (p.Glu427Lys) rs886044851
NM_006306.3(SMC1A):c.1323C>T (p.Tyr441=) rs144850468
NM_006306.3(SMC1A):c.1364T>C (p.Leu455Pro) rs886044858
NM_006306.3(SMC1A):c.1545+4A>C rs377270943
NM_006306.3(SMC1A):c.2447G>A (p.Arg816His) rs886044819
NM_006306.3(SMC1A):c.2824C>T (p.Leu942=) rs139654605
NM_006306.3(SMC1A):c.287G>C (p.Arg96Pro)
NM_006306.3(SMC1A):c.3450C>T (p.Ala1150=) rs142611198
NM_006306.3(SMC1A):c.3591C>T (p.Ala1197=) rs146216425
NM_006306.3(SMC1A):c.412-10C>T rs149219651
NM_006306.3(SMC1A):c.699G>A (p.Val233=) rs145319852
NM_006306.3(SMC1A):c.861G>A (p.Lys287=) rs782543093

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