ClinVar Miner

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

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
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.1947T>A (p.Pro649=)
NM_002972.4(SBF1):c.2127+4C>T rs151027707
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=)
NM_002972.4(SBF1):c.3904+5C>G rs115032856
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=)
NM_002972.4(SBF1):c.4813-18C>T
NM_002972.4(SBF1):c.5604T>C (p.Val1868=)
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=)
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216
NM_003172.4(SURF1):c.751+6T>C rs41296099
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443
NM_005340.7(HINT1):c.111+5_111+6insC
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.474C>T (p.Asp158=)
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.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3794-20C>T
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_139241.3(FGD4):c.836+10G>T rs41276676

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