ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Inherited Neuropathy Consortium

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850
NM_004082.4(DCTN1):c.3558G>A (p.Met1186Ile) rs200834352
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala)
NM_014874.3(MFN2):c.572T>C (p.Leu191Pro) rs879254288
NM_014874.4(MFN2):c.272T>G (p.Val91Gly)
NM_015548.5(DST):c.3319-2694A>G rs373440035
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_032667.6(BSCL2):c.286C>A (p.Arg96Ser)
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln) rs1184021143
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro)
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) rs142117467

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