List of variants in gene DGUOK studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_080916.3(DGUOK):c.708-3T>C	rs370071744	0.00064
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)	rs184770596	0.00044
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)	rs144181978	0.00021
NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser)	rs200169027	0.00006
NM_080916.3(DGUOK):c.653A>G (p.Tyr218Cys)	rs137902450	0.00003
NM_080916.3(DGUOK):c.792A>C (p.Glu264Asp)	rs745732447	0.00002
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys)	rs104893632	0.00001
NM_080916.3(DGUOK):c.277G>A (p.Gly93Arg)
NM_080916.3(DGUOK):c.318G>C (p.Trp106Cys)
NM_080916.3(DGUOK):c.352C>T (p.Arg118Cys)	rs767604650
NM_080916.3(DGUOK):c.487del (p.Asp163fs)	rs2467049254
NM_080916.3(DGUOK):c.506A>G (p.Tyr169Cys)
NM_080916.3(DGUOK):c.595T>C (p.Cys199Arg)
NM_080916.3(DGUOK):c.800T>C (p.Met267Thr)	rs769518888

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