List of variants in gene CHRND reported as pathogenic by GeneDx

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000751.3(CHRND):c.127C>T (p.Arg43Trp)	rs55868108	0.00001
NM_000751.3(CHRND):c.521_524dup (p.Ala176fs)	rs1574630951	0.00001
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe)	rs1574633904

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