ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Mendelics

Included ClinVar conditions (134):
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ClinVar version:
Total variants: 57
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HGVS dbSNP
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.466_467CT[1] (p.Tyr157fs)
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.78+3G>T
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001303256.3(MORC2):c.2380+1G>A
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001370298.1(FGD4):c.123C>G (p.Ile41Met)
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser)
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val)
NM_001376.5(DYNC1H1):c.3961-2A>G
NM_001376.5(DYNC1H1):c.7705G>A (p.Val2569Met)
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn)
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met)
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.671+3A>G rs74024185
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp) rs11537667
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_004715.5(CTDP1):c.2418-207_2418-165dup
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.3(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter)
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
NM_014874.4(MFN2):c.286C>A (p.His96Asn)
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn)
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro)
NM_015560.2(OPA1):c.1346del (p.Thr449fs) rs794729196
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
NM_018972.4(GDAP1):c.674_676GAA[1] (p.Arg226del)
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) rs201314759
NM_021625.4(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs)
NM_024577.4(SH3TC2):c.974del (p.Asn325fs)
NM_030962.3(SBF2):c.5203C>T (p.Gln1735Ter)
NM_033500.2(HK1):c.-141A>G
NM_138361.5(LRSAM1):c.1037_1040del (p.Asn346fs)
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu)

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