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

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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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.2659del (p.Leu887fs)
NM_018706.7(DHTKD1):c.2744C>T (p.Ala915Val)	rs756509201
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)	rs1016086446

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