List of variants in gene DHTKD1 reported as uncertain significance for Charcot-Marie-Tooth disease axonal type 2Q

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_018706.7(DHTKD1):c.847A>G (p.Met283Val)	rs145337285	0.00021
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys)	rs375292909	0.00002
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu)	rs556384043	0.00001
NM_018706.7(DHTKD1):c.677G>A (p.Arg226Lys)	rs775851398	0.00001
NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe)	rs777908204	0.00001
NM_018706.7(DHTKD1):c.1391A>G (p.Glu464Gly)	rs576359665
NM_018706.7(DHTKD1):c.2546A>T (p.Glu849Val)	rs778723208
NM_018706.7(DHTKD1):c.2659del (p.Leu887fs)	rs1833514594
NM_018706.7(DHTKD1):c.2744C>T (p.Ala915Val)	rs756509201
NM_018706.7(DHTKD1):c.63G>T (p.Trp21Cys)

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