ClinVar Miner

List of variants in gene DHTKD1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter) rs606231237
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr) rs762729182
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) rs375292909
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) rs770649540
NM_018706.7(DHTKD1):c.2744C>T (p.Ala915Val) rs756509201
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)

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