ClinVar Miner

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

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.1102G>A (p.Glu368Lys) rs2146604722
NM_006306.4(SMC1A):c.110G>T (p.Gly37Val) rs1569359540
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.4(SMC1A):c.1267C>A (p.Gln423Lys) rs587784404
NM_006306.4(SMC1A):c.1276_1282del (p.Arg426fs)
NM_006306.4(SMC1A):c.128A>T (p.Asp43Val) rs1569359535
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys) rs2075701790
NM_006306.4(SMC1A):c.1546-2A>C
NM_006306.4(SMC1A):c.1694G>A (p.Gly565Glu) rs2146600012
NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser)
NM_006306.4(SMC1A):c.1715C>T (p.Pro572Leu)
NM_006306.4(SMC1A):c.1754T>C (p.Leu585Pro) rs587784406
NM_006306.4(SMC1A):c.1756C>T (p.Arg586Trp) rs2146599836
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu) rs1602410098
NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del) rs2146599562
NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del) rs797045992
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.4(SMC1A):c.2314-2A>G rs1602409271
NM_006306.4(SMC1A):c.2314-2A>T rs1602409271
NM_006306.4(SMC1A):c.2314-7_2314-3del rs2146598341
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr) rs2075680329
NM_006306.4(SMC1A):c.2327T>A (p.Val776Glu) rs587784410
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006306.4(SMC1A):c.2447G>A (p.Arg816His) rs886044819
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006306.4(SMC1A):c.277_288del (p.Thr93_Arg96del)
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys) rs1556887759
NM_006306.4(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
NM_006306.4(SMC1A):c.3070A>T (p.Asn1024Tyr) rs587784415
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.4(SMC1A):c.3187AAG[1] (p.Lys1064del) rs2075588362
NM_006306.4(SMC1A):c.3196C>A (p.Arg1066Ser)
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr) rs2146582443
NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe) rs2146582443
NM_006306.4(SMC1A):c.3373A>G (p.Met1125Val) rs1057519499
NM_006306.4(SMC1A):c.3437+1G>A rs2146582412
NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp) rs1569351534
NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp) rs868961188
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser) rs1556885810
NM_006306.4(SMC1A):c.3508-2A>G rs2146581345
NM_006306.4(SMC1A):c.3557T>C (p.Val1186Ala) rs587784419
NM_006306.4(SMC1A):c.3568A>C (p.Lys1190Gln) rs1057524798
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys) rs782175064
NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del) rs1569351341
NM_006306.4(SMC1A):c.411+1G>C rs2146606502
NM_006306.4(SMC1A):c.421G>A (p.Glu141Lys) rs587784420
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter) rs1602413582
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.855-1G>A
NM_006306.4(SMC1A):c.95G>A (p.Gly32Glu) rs1556892359

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