ClinVar Miner

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

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Total variants: 31
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HGVS dbSNP
NC_000023.10:g.(?_53430478)_(53432101_?)del
NM_001281463.1(SMC1A):c.1233del (p.Lys411fs)
NM_001281463.1(SMC1A):c.2427_2429del (p.Asp809_Gln810delinsGlu)
NM_001281463.1(SMC1A):c.2481del (p.Ile827fs) rs797045069
NM_001281463.1(SMC1A):c.2787_2790del (p.Ser929fs) rs863225458
NM_001281463.1(SMC1A):c.3483_3486dup (p.Ile1163fs) rs863225459
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) rs587784422
NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) rs727503773
NM_006306.3(SMC1A):c.1114-2A>G rs1569358628
NM_006306.3(SMC1A):c.116C>G (p.Ser39Ter) rs1057518670
NM_006306.3(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.3(SMC1A):c.1388_1389insC (p.Glu464fs) rs1057519398
NM_006306.3(SMC1A):c.1478A>C (p.Glu493Ala) rs122454122
NM_006306.3(SMC1A):c.1487G>A (p.Arg496His) rs122454123
NM_006306.3(SMC1A):c.2035G>T (p.Glu679Ter) rs1569356968
NM_006306.3(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.3(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.3(SMC1A):c.2369G>A (p.Arg790Gln) rs797045993
NM_006306.3(SMC1A):c.2394dup (p.Arg799fs) rs1569356555
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.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.3(SMC1A):c.547C>T (p.Gln183Ter) rs587784421
NM_006306.3(SMC1A):c.587G>A (p.Arg196His) rs1556890815
NM_006306.3(SMC1A):c.616-2A>G rs587784423
NM_006306.3(SMC1A):c.655del (p.Ala219fs) rs1569359048
SMC1A, 15-BP DEL, NT173
SMC1A, 8.152-KB DEL

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