List of variants in gene HIKESHI studied for Hypomyelinating leukodystrophy 13

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu)	rs202003795	0.00010
NM_016401.4(HIKESHI):c.518C>T (p.Pro173Leu)	rs759061923	0.00002
NM_016401.4(HIKESHI):c.325G>C (p.Ala109Pro)	rs201042989	0.00001
NM_016401.4(HIKESHI):c.344del (p.Val115fs)	rs2496157331

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