List of variants in gene KLHL40 reported as likely 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)	rs367579275	0.00006
NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys)	rs758188096	0.00001
NM_152393.4(KLHL40):c.557T>A (p.Leu186His)	rs777496833	0.00001
NM_152393.4(KLHL40):c.1274dup (p.Glu426fs)	rs1085307627

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