ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 1C by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001136472.1(LITAF):c.430G>A (p.Val144Met) rs121908615
NM_001136473.1(LITAF):c.364C>G (p.Leu122Val) rs104894522
NM_004862.3(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_004862.3(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_004862.3(LITAF):c.346T>G (p.Trp116Gly) rs104894521

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