ClinVar Miner

List of variants in gene SMC1A reported as pathogenic by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 9
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NM_001281463.1(SMC1A):c.1127G>A (p.Arg376Gln) rs587784403
NM_001281463.1(SMC1A):c.2065C>T (p.Arg689Trp) rs587784409
NM_001281463.1(SMC1A):c.2302C>T (p.Arg768Trp) rs587784412
NM_001281463.1(SMC1A):c.2303G>A (p.Arg768Gln) rs797045993
NM_001281463.1(SMC1A):c.3188A>G (p.Tyr1063Cys) rs587784418
NM_001281463.1(SMC1A):c.481C>T (p.Gln161Ter) rs587784421
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) rs587784422
NM_001281463.1(SMC1A):c.550-2A>G rs587784423
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773

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