List of variants in gene AKR1D1 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly)	rs143960528	0.00058
NM_005989.4(AKR1D1):c.356T>C (p.Ile119Thr)	rs201702426	0.00033
NM_005989.4(AKR1D1):c.149G>A (p.Arg50Gln)	rs201752860	0.00024
NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=)	rs149920599	0.00017
NM_005989.4(AKR1D1):c.233G>A (p.Arg78Gln)	rs199535210	0.00015
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)	rs121918342	0.00011
NM_005989.4(AKR1D1):c.378+6T>G	rs201142773	0.00010
NM_005989.4(AKR1D1):c.242A>T (p.Asp81Val)	rs567335712	0.00008
NM_005989.4(AKR1D1):c.232C>T (p.Arg78Trp)	rs368152787	0.00006
NM_005989.4(AKR1D1):c.596A>G (p.Tyr199Cys)	rs114392001	0.00004
NM_005989.4(AKR1D1):c.60C>T (p.Ile20=)	rs756630815	0.00004
NM_005989.4(AKR1D1):c.723T>C (p.Asp241=)	rs200829661	0.00004
NM_005989.4(AKR1D1):c.92C>T (p.Ser31Leu)	rs148732404	0.00004
NM_005989.4(AKR1D1):c.542A>G (p.Asn181Ser)	rs765269725	0.00003
NM_005989.4(AKR1D1):c.855+10T>C	rs763628356	0.00003
NM_005989.4(AKR1D1):c.906G>A (p.Leu302=)	rs1034543165	0.00003
NM_005989.4(AKR1D1):c.336T>C (p.Asp112=)	rs200261541	0.00002
NM_005989.4(AKR1D1):c.380C>T (p.Pro127Leu)	rs140421486	0.00002
NM_005989.4(AKR1D1):c.24C>T (p.His8=)	rs138462322	0.00001
NM_005989.4(AKR1D1):c.329A>C (p.Gln110Pro)	rs1268021700	0.00001
NM_005989.4(AKR1D1):c.332T>C (p.Leu111Pro)	rs187887082	0.00001
NM_005989.4(AKR1D1):c.754A>G (p.Asn252Asp)	rs757956464	0.00001
NM_005989.4(AKR1D1):c.836G>A (p.Arg279Lys)	rs765314823	0.00001
NM_005989.4(AKR1D1):c.94-8C>G	rs200803153	0.00001
NM_005989.4(AKR1D1):c.10A>G (p.Ser4Gly)	rs794726925
NM_005989.4(AKR1D1):c.345T>A (p.Asp115Glu)	rs146747335
NM_005989.4(AKR1D1):c.48C>T (p.Asn16=)	rs1562928432
NM_005989.4(AKR1D1):c.494C>A (p.Ser165Tyr)	rs1562937115
NM_005989.4(AKR1D1):c.543C>G (p.Asn181Lys)	rs770209934
NM_005989.4(AKR1D1):c.558A>C (p.Lys186Asn)	rs886044137

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