ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Mendelics

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000304.4(PMP22):c.78+3G>T rs1597635528
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_001376.5(DYNC1H1):c.3961-2A>G rs1595608413
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn) rs1595597963
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met) rs373682811
NM_014874.3(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) rs1569842296
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn) rs1557524703
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro) rs28940294
NM_015560.2(OPA1):c.1346del (p.Thr449fs) rs794729196
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187
NM_033500.2(HK1):c.-141A>G rs1589439508
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu) rs1580870705

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