ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (134):
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ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001243571.2(MTMR2):c.-404+13C>T rs139510268
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala)
NM_002972.4(SBF1):c.1947T>A (p.Pro649=)
NM_002972.4(SBF1):c.2127+4C>T rs151027707
NM_002972.4(SBF1):c.219C>T (p.Ile73=)
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser)
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile)
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=)
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=)
NM_002972.4(SBF1):c.3904+5C>G rs115032856
NM_002972.4(SBF1):c.3905-9C>T
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly)
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=)
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp)
NM_002972.4(SBF1):c.4813-18C>T
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=)
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly)
NM_002972.4(SBF1):c.5604T>C (p.Val1868=)
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=)
NM_002972.4(SBF1):c.898-4G>A rs377428323
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216
NM_003172.4(SURF1):c.751+6T>C rs41296099
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_003680.3(YARS1):c.298G>A (p.Val100Met) rs766704849
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443
NM_005340.7(HINT1):c.111+5_111+6insC
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) rs2233319
NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) rs9657362
NM_014629.4(ARHGEF10):c.1113C>T (p.Phe371=) rs34655804
NM_014629.4(ARHGEF10):c.1260+4C>T
NM_014629.4(ARHGEF10):c.1991T>C (p.Met664Thr)
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile) rs2294039
NM_014629.4(ARHGEF10):c.2909C>T (p.Thr970Met)
NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val)
NM_014629.4(ARHGEF10):c.474C>T (p.Asp158=)
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=)
NM_015271.5(TRIM2):c.870C>T (p.Asn290=) rs35333794
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) rs145199888
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154
NM_030962.3(SBF2):c.3794-20C>T
NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) rs572571832
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.619+14G>A
NM_139241.3(FGD4):c.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.494dup (p.Leu167fs)
NM_139241.3(FGD4):c.836+10G>T rs41276676
NM_139241.3(FGD4):c.93-20C>G

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