ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000166.6(GJB1):c.467T>A (p.Leu156His)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser)
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_001127660.1(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile)
NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu)
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) rs1595623556
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002437.5(MPV17):c.376-9T>G rs368900406
NM_003680.3:c.1373C>T
NM_006158.5(NEFL):c.298C>T (p.Arg100Cys)
NM_007289.4(MME):c.307C>T (p.Arg103Cys)
NM_014365.2(HSPB8):c.584G>A (p.Cys195Tyr) rs778223243
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn)
NM_022489.4(INF2):c.2406C>G (p.His802Gln)
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081
NM_030962.3:c.161G>A
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771

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