List of variants in gene AKR1D1 reported as likely pathogenic by Neuberg Centre For Genomic Medicine, NCGM

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_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)	rs121918342	0.00011
NM_005989.4(AKR1D1):c.141_142del (p.Gly48fs)
NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter)	rs770247815

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