List of variants in gene KLHL40 reported as likely pathogenic by Invitae

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_152393.4(KLHL40):c.1421+1G>T	rs1186218257	0.00001
NM_152393.4(KLHL40):c.1152+1G>A
NM_152393.4(KLHL40):c.1152+2T>A	rs1575219191
NM_152393.4(KLHL40):c.1153-2A>T	rs752493018
NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys)	rs367579275
NM_152393.4(KLHL40):c.1607+1G>T	rs2125845625

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