ClinVar Miner

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

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) rs142117467 0.00044
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850 0.00024
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile) rs200834352 0.00009
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala) rs927119938 0.00002
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139 0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile) rs1383117534 0.00001
NM_001723.7(DST):c.6289A>G (p.Thr2097Ala) rs373440035 0.00001
NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser) rs772536764
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_014874.4(MFN2):c.272T>G (p.Val91Gly) rs1569816262
NM_014874.4(MFN2):c.572T>C (p.Leu191Pro) rs879254288
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro) rs1390567933

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