ClinVar Miner

List of variants in gene LITAF reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_001136472.2(LITAF):c.364C>G (p.Leu122Val) rs104894522
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr) rs281865135
NM_001136472.2(LITAF):c.430G>A (p.Val144Met) rs121908615

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