ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
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_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile)
NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu)
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) rs1595623556
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_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081

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