ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
Download table as spreadsheet
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) rs746439204
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708
NM_002972.4(SBF1):c.2127+4C>T rs151027707
NM_002972.4(SBF1):c.219C>T (p.Ile73=) rs750211528
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) rs188976869
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser) rs199705951
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile) rs370463792
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561
NM_002972.4(SBF1):c.3904+5C>G rs115032856
NM_002972.4(SBF1):c.3905-9C>T rs574807761
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) rs200718883
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=) rs79468232
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp) rs370182117
NM_002972.4(SBF1):c.4813-18C>T rs41281541
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=) rs570393243
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly) rs373534319
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206
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 rs1580686330
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln) rs373197800
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 rs79548709
NM_014629.4(ARHGEF10):c.1991T>C (p.Met664Thr) rs34319003
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile) rs2294039
NM_014629.4(ARHGEF10):c.2909C>T (p.Thr970Met) rs35925274
NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val) rs151080025
NM_014629.4(ARHGEF10):c.474C>T (p.Asp158=) rs147914724
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=) rs773419235
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 rs116966215
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 rs770398029
NM_139241.3(FGD4):c.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.494dup (p.Leu167fs) rs1592294998
NM_139241.3(FGD4):c.836+10G>T rs41276676
NM_139241.3(FGD4):c.93-20C>G rs1592293275

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.