ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 1C by GeneReviews

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
NM_004862.3(LITAF):c.332C>G (p.Ala111Gly) rs281865134
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
NM_004862.3(LITAF):c.385G>A (p.Ala129Thr) rs797044847
NM_004862.3(LITAF):c.403C>A (p.Pro135Thr) rs281865135
NM_004862.3(LITAF):c.403C>T (p.Pro135Ser) rs281865135
NM_004862.3(LITAF):c.404C>G (p.Pro135Arg) rs797044848
NM_006158.4(NEFL):c.64C>T (p.Pro22Ser) rs28928910

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