List of variants in gene PHKA2 reported as benign for carbohydrate metabolism disease

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_000292.3(PHKA2):c.2361-12A>C	rs148877451	0.02944
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln)	rs17313469	0.02052
NM_000292.3(PHKA2):c.849T>A (p.Ile283=)	rs61733284	0.01392
NM_000292.3(PHKA2):c.718-3C>T	rs140662042	0.01175
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=)	rs61729452	0.00939
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=)	rs61733281	0.00738
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)	rs143732206	0.00657
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)	rs16980929	0.00520
NM_000292.3(PHKA2):c.963C>T (p.Phe321=)	rs35010660	0.00498
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=)	rs112249974	0.00409
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn)	rs149991825	0.00332
NM_000292.3(PHKA2):c.2806+13C>A	rs186550641	0.00296
NM_000292.3(PHKA2):c.3282+13G>A	rs200925279	0.00267
NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala)	rs142034171	0.00237
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=)	rs146631734	0.00207
NM_000292.3(PHKA2):c.1896C>T (p.Ser632=)	rs139852230	0.00136
NM_000292.3(PHKA2):c.742A>C (p.Arg248=)	rs149219369	0.00135
NM_000292.3(PHKA2):c.1964-7A>G	rs376658808	0.00126
NM_000292.3(PHKA2):c.2956G>A (p.Glu986Lys)	rs144570979	0.00119
NM_000292.3(PHKA2):c.2568G>T (p.Pro856=)	rs141034910	0.00115
NM_000292.3(PHKA2):c.3336+17G>A	rs199840021	0.00106
NM_000292.3(PHKA2):c.1767A>G (p.Leu589=)	rs148153758	0.00102
NM_000292.3(PHKA2):c.1042-17A>G	rs368817576	0.00093
NM_000292.3(PHKA2):c.2172T>C (p.Ser724=)	rs144151433	0.00083
NM_000292.3(PHKA2):c.3112-14T>C	rs371304628	0.00081
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=)	rs139136352	0.00081
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=)	rs150764699	0.00076
NM_000292.3(PHKA2):c.1635C>G (p.Ile545Met)	rs148176463	0.00075
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr)	rs144591812	0.00045
NM_000292.3(PHKA2):c.1579C>G (p.Gln527Glu)	rs17856445	0.00039
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg)	rs201183167	0.00038
NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr)	rs150445034	0.00037
NM_000292.3(PHKA2):c.3069G>A (p.Val1023=)	rs748792637	0.00013
NM_000292.3(PHKA2):c.1246-12C>T	rs759418361	0.00012
NM_000292.3(PHKA2):c.1793+18T>A	rs567115484	0.00007
NM_000292.3(PHKA2):c.3327G>A (p.Thr1109=)	rs768419165	0.00004
NM_000292.3(PHKA2):c.1715-14C>T
NM_000292.3(PHKA2):c.2146A>G (p.Met716Val)
NM_000292.3(PHKA2):c.2806+16C>T
NM_000292.3(PHKA2):c.3402C>T (p.Pro1134=)

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