ClinVar Miner

List of variants in gene SMC1A reported as pathogenic by Invitae

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Total variants: 9
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HGVS dbSNP
NC_000023.10:g.(?_53430478)_(53432101_?)del
NM_001281463.1(SMC1A):c.1233del (p.Lys411fs)
NM_006306.3(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.3(SMC1A):c.2369G>A (p.Arg790Gln) rs797045993
NM_006306.3(SMC1A):c.2872dup (p.Gln958fs)
NM_006306.3(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.3(SMC1A):c.3151C>T (p.Arg1051Ter) rs1569351907
NM_006306.3(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006306.3(SMC1A):c.587G>A (p.Arg196His) rs1556890815

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