ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Athena Diagnostics Inc

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978

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