ClinVar Miner

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

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00657
NM_000292.3(PHKA2):c.2806+13C>A rs186550641 0.00296
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734 0.00207
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699 0.00076
NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser) rs138395800 0.00068
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) rs201183167 0.00038
NM_000292.3(PHKA2):c.3244G>A (p.Val1082Met) rs142123423 0.00034
NM_000292.3(PHKA2):c.3615G>A (p.Pro1205=) rs200550207 0.00023
NM_000292.3(PHKA2):c.339C>T (p.His113=) rs142799459 0.00022
NM_000292.3(PHKA2):c.295G>A (p.Val99Met) rs200281934 0.00020
NM_000292.3(PHKA2):c.2807-18C>T rs373513953 0.00015
NM_000292.3(PHKA2):c.3038G>A (p.Arg1013Gln) rs753106449 0.00013
NM_000292.3(PHKA2):c.1308T>G (p.Pro436=) rs148492015 0.00012
NM_000292.3(PHKA2):c.1138-15T>G rs199624054 0.00011
NM_000292.3(PHKA2):c.2670C>T (p.Leu890=) rs143721284 0.00011
NM_000292.3(PHKA2):c.477C>T (p.Leu159=) rs187396860 0.00009
NM_000292.3(PHKA2):c.3567G>A (p.Glu1189=) rs773943898 0.00006
NM_000292.3(PHKA2):c.1989T>C (p.Tyr663=) rs770108234 0.00005
NM_000292.3(PHKA2):c.2677-17G>A rs755254108 0.00004
NM_000292.3(PHKA2):c.285+12C>T rs765795350 0.00003
NM_000292.3(PHKA2):c.718-19C>T rs770389791 0.00003
NM_000292.3(PHKA2):c.3282+14C>T rs760202357 0.00002
NM_000292.3(PHKA2):c.1245+9T>C rs1462014190 0.00001
NM_000292.3(PHKA2):c.1460-5A>C rs1409969328 0.00001
NM_000292.3(PHKA2):c.1793+8G>T rs761684724 0.00001
NM_000292.3(PHKA2):c.1889A>G (p.Asn630Ser) rs760621953 0.00001
NM_000292.3(PHKA2):c.2385C>G (p.Leu795=) rs777278113 0.00001
NM_000292.3(PHKA2):c.2622A>G (p.Thr874=) rs1249240827 0.00001
NM_000292.3(PHKA2):c.2868C>T (p.His956=) rs779163512 0.00001
NM_000292.3(PHKA2):c.3189G>T (p.Arg1063=) rs775954610 0.00001
NM_000292.3(PHKA2):c.3330C>T (p.Thr1110=) rs749097024 0.00001
NM_000292.3(PHKA2):c.37G>A (p.Gly13Arg) rs202065000 0.00001
NM_000292.3(PHKA2):c.1137+17G>A
NM_000292.3(PHKA2):c.1215C>T (p.Ser405=) rs368320508
NM_000292.3(PHKA2):c.1221C>T (p.Tyr407=)
NM_000292.3(PHKA2):c.147C>T (p.Tyr49=)
NM_000292.3(PHKA2):c.1632G>A (p.Arg544=) rs201710031
NM_000292.3(PHKA2):c.18T>C (p.Asn6=) rs954792469
NM_000292.3(PHKA2):c.1942C>T (p.Leu648=)
NM_000292.3(PHKA2):c.1964-15C>A
NM_000292.3(PHKA2):c.216C>T (p.Ala72=)
NM_000292.3(PHKA2):c.2257G>A (p.Asp753Asn)
NM_000292.3(PHKA2):c.2360+12A>G
NM_000292.3(PHKA2):c.2398G>A (p.Gly800Arg)
NM_000292.3(PHKA2):c.2445C>T (p.Gly815=)
NM_000292.3(PHKA2):c.2578C>T (p.Arg860Trp)
NM_000292.3(PHKA2):c.2613G>A (p.Glu871=)
NM_000292.3(PHKA2):c.2802C>G (p.Cys934Trp)
NM_000292.3(PHKA2):c.2806+12G>A
NM_000292.3(PHKA2):c.2807-11T>C
NM_000292.3(PHKA2):c.286-15T>A
NM_000292.3(PHKA2):c.2895C>T (p.Gly965=)
NM_000292.3(PHKA2):c.3027+10C>T
NM_000292.3(PHKA2):c.3027+8C>A
NM_000292.3(PHKA2):c.3111+14G>A rs759056537
NM_000292.3(PHKA2):c.3111+14G>T rs759056537
NM_000292.3(PHKA2):c.3158C>T (p.Ser1053Leu)
NM_000292.3(PHKA2):c.3159G>A (p.Ser1053=)
NM_000292.3(PHKA2):c.3282+15G>A
NM_000292.3(PHKA2):c.3282+8G>A
NM_000292.3(PHKA2):c.3336+20G>T
NM_000292.3(PHKA2):c.3357G>A (p.Lys1119=)
NM_000292.3(PHKA2):c.3492G>A (p.Val1164=)
NM_000292.3(PHKA2):c.3492G>T (p.Val1164=) rs754254758
NM_000292.3(PHKA2):c.3507G>A (p.Gln1169=)
NM_000292.3(PHKA2):c.354C>T (p.Thr118=)
NM_000292.3(PHKA2):c.3615G>C (p.Pro1205=)
NM_000292.3(PHKA2):c.3665A>C (p.Tyr1222Ser)
NM_000292.3(PHKA2):c.3690G>C (p.Ser1230=) rs369001472
NM_000292.3(PHKA2):c.454+10G>A
NM_000292.3(PHKA2):c.454+9G>C
NM_000292.3(PHKA2):c.84C>T (p.Pro28=)
NM_000292.3(PHKA2):c.858G>A (p.Lys286=)

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