ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP
NM_001281463.1(SMC1A):c.-118G>A rs1556892359
NM_001281463.1(SMC1A):c.1070_1072AAG[2] (p.Glu359del) rs797045991
NM_001281463.1(SMC1A):c.1201C>A (p.Gln401Lys) rs587784404
NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly) rs587784405
NM_001281463.1(SMC1A):c.1688T>C (p.Leu563Pro) rs587784406
NM_001281463.1(SMC1A):c.1811G>A (p.Arg604His) rs587784407
NM_001281463.1(SMC1A):c.1980_1982del (p.Glu662del) rs797045992
NM_001281463.1(SMC1A):c.2012G>A (p.Arg671Gln) rs587784408
NM_001281463.1(SMC1A):c.2248-2A>G rs1602409271
NM_001281463.1(SMC1A):c.2261T>A (p.Val754Glu) rs587784410
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr) rs387906702
NM_001281463.1(SMC1A):c.2354G>A (p.Arg785His) rs1569356550
NM_001281463.1(SMC1A):c.2381G>A (p.Arg794His) rs886044819
NM_001281463.1(SMC1A):c.2990_3016delinsTGCAG (p.Arg997fs) rs1556886127
NM_001281463.1(SMC1A):c.3004A>T (p.Asn1002Tyr) rs587784415
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
NM_001281463.1(SMC1A):c.3188A>G (p.Tyr1063Cys) rs587784418
NM_001281463.1(SMC1A):c.3307A>G (p.Met1103Val) rs1057519499
NM_001281463.1(SMC1A):c.3395T>A (p.Val1132Asp) rs1569351534
NM_001281463.1(SMC1A):c.3491T>C (p.Val1164Ala) rs587784419
NM_001281463.1(SMC1A):c.355G>A (p.Glu119Lys) rs587784420
NM_001281463.1(SMC1A):c.3586_3597del (p.Phe1196_Thr1199del) rs1569351341
NM_001281463.1(SMC1A):c.44G>T (p.Gly15Val) rs1569359540
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) rs587784422
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val) rs1556891104
NM_001281463.1(SMC1A):c.62A>T (p.Asp21Val) rs1569359535
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu) rs1602410098
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr)
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp) rs868961188
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter) rs1602413582

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