ClinVar Miner

List of variants reported as pathogenic 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: 8
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HGVS dbSNP
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
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.917A>G (p.His306Arg) rs387906738
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771

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