ClinVar Miner

List of variants in gene PHKA1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP
GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
NC_000023.11:g.(?_72644342)_(72676170_?)del
NM_002637.4(PHKA1):c.*1151C>T rs782605900
NM_002637.4(PHKA1):c.*1241_*1242GT[11] rs111688568
NM_002637.4(PHKA1):c.*1241_*1242GT[13] rs111688568
NM_002637.4(PHKA1):c.*1241_*1242GT[14] rs111688568
NM_002637.4(PHKA1):c.*1275A>G rs782306248
NM_002637.4(PHKA1):c.*1303T>C rs782190105
NM_002637.4(PHKA1):c.*1375A>G
NM_002637.4(PHKA1):c.*1797A>G
NM_002637.4(PHKA1):c.*1865G>T rs782659275
NM_002637.4(PHKA1):c.*2056T>A
NM_002637.4(PHKA1):c.*2110A>G
NM_002637.4(PHKA1):c.*231A>T rs374264624
NM_002637.4(PHKA1):c.*467T>C rs970811941
NM_002637.4(PHKA1):c.*500C>A
NM_002637.4(PHKA1):c.*503C>T
NM_002637.4(PHKA1):c.*553C>T rs782055740
NM_002637.4(PHKA1):c.*625_*626CT[2] rs3070316
NM_002637.4(PHKA1):c.*674A>C rs1028190311
NM_002637.4(PHKA1):c.*772C>T
NM_002637.4(PHKA1):c.*804C>T
NM_002637.4(PHKA1):c.*887A>G
NM_002637.4(PHKA1):c.-229G>A rs782474797
NM_002637.4(PHKA1):c.-261C>A
NM_002637.4(PHKA1):c.1067A>G (p.Glu356Gly)
NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys)
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn) rs141251024
NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile)
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met)
NM_002637.4(PHKA1):c.1428T>A (p.Ala476=)
NM_002637.4(PHKA1):c.1459+6_1459+8del rs782679415
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr)
NM_002637.4(PHKA1):c.1592A>T (p.Tyr531Phe)
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=)
NM_002637.4(PHKA1):c.1714G>A (p.Asp572Asn)
NM_002637.4(PHKA1):c.1727C>A (p.Thr576Lys) rs1474761630
NM_002637.4(PHKA1):c.1748T>C (p.Leu583Pro)
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His)
NM_002637.4(PHKA1):c.1998C>T (p.His666=)
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln) rs201234013
NM_002637.4(PHKA1):c.2112C>T (p.Thr704=) rs782437467
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=)
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp) rs151279562
NM_002637.4(PHKA1):c.2190C>T (p.Phe730=) rs1228510553
NM_002637.4(PHKA1):c.229T>C (p.Leu77=)
NM_002637.4(PHKA1):c.2370-14C>T
NM_002637.4(PHKA1):c.2433C>T (p.Thr811=) rs61732499
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629
NM_002637.4(PHKA1):c.2483A>G (p.Tyr828Cys)
NM_002637.4(PHKA1):c.2527-1G>T rs1556257317
NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs)
NM_002637.4(PHKA1):c.2715G>A (p.Met905Ile) rs1603254167
NM_002637.4(PHKA1):c.2725C>G (p.Pro909Ala)
NM_002637.4(PHKA1):c.275T>C (p.Met92Thr)
NM_002637.4(PHKA1):c.2856G>A (p.Ser952=)
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln)
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=)
NM_002637.4(PHKA1):c.29G>A (p.Arg10Gln) rs1603278200
NM_002637.4(PHKA1):c.3042T>C (p.Phe1014=)
NM_002637.4(PHKA1):c.3068G>A (p.Ser1023Asn) rs782344973
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His)
NM_002637.4(PHKA1):c.3257C>A (p.Ser1086Tyr) rs375128462
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter) rs137852546
NM_002637.4(PHKA1):c.3350G>A (p.Arg1117His)
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590
NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His)
NM_002637.4(PHKA1):c.3435C>T (p.Ile1145=) rs148981522
NM_002637.4(PHKA1):c.3443T>G (p.Ile1148Ser) rs782365144
NM_002637.4(PHKA1):c.3501A>G (p.Lys1167=) rs782682520
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr) rs144813238
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) rs201573707
NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr)
NM_002637.4(PHKA1):c.3550A>G (p.Ile1184Val)
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=)
NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe)
NM_002637.4(PHKA1):c.3631G>A (p.Val1211Met) rs1025423127
NM_002637.4(PHKA1):c.3669A>G (p.Gln1223=) rs782257959
NM_002637.4(PHKA1):c.429C>T (p.Leu143=) rs138066694
NM_002637.4(PHKA1):c.430T>G (p.Phe144Val) rs782285281
NM_002637.4(PHKA1):c.442A>G (p.Met148Val)
NM_002637.4(PHKA1):c.44C>G (p.Ala15Gly)
NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn) rs201601894
NM_002637.4(PHKA1):c.492C>T (p.Phe164=) rs149354112
NM_002637.4(PHKA1):c.521C>G (p.Ala174Gly)
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)
NM_002637.4(PHKA1):c.667G>A (p.Gly223Arg) rs137852548
NM_002637.4(PHKA1):c.678_684del (p.Val227fs)
NM_002637.4(PHKA1):c.695del (p.Ala232fs) rs1603266754
NM_002637.4(PHKA1):c.718-12C>A rs782227106
NM_002637.4(PHKA1):c.742C>T (p.Arg248Cys)
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala)
NM_002637.4(PHKA1):c.864+11A>G rs181490917
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys) rs138752449
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter) rs1256371424
NM_002637.4(PHKA1):c.896A>T (p.Asp299Val) rs137852547
PHKA1, IVSL, G-C, +1

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