ClinVar Miner

List of variants in gene PHKB studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 178
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HGVS dbSNP
NC_000016.10:g.(?_47669195)_(47669437_?)del
NC_000016.10:g.47614206_47644831del
NC_000016.9:g.(?_47545556)_(47581479_?)del
NC_000016.9:g.(?_47682424)_(47684852_?)dup
NM_000293.2(PHKB):c.[2923T>C;2926G>T]
NM_000293.3(PHKB):c.*1000del rs11299370
NM_000293.3(PHKB):c.*1001G>A rs868394484
NM_000293.3(PHKB):c.*1001del rs775113534
NM_000293.3(PHKB):c.*1007G>A
NM_000293.3(PHKB):c.*1105T>C
NM_000293.3(PHKB):c.*1253A>G
NM_000293.3(PHKB):c.*1262A>C rs886052030
NM_000293.3(PHKB):c.*1311dup rs886052031
NM_000293.3(PHKB):c.*132G>A
NM_000293.3(PHKB):c.*148T>A rs368887864
NM_000293.3(PHKB):c.*1709G>A
NM_000293.3(PHKB):c.*1753G>A rs7202866
NM_000293.3(PHKB):c.*1783A>G rs886052032
NM_000293.3(PHKB):c.*1839C>G
NM_000293.3(PHKB):c.*1915A>G
NM_000293.3(PHKB):c.*2075G>A
NM_000293.3(PHKB):c.*2086A>G rs9940720
NM_000293.3(PHKB):c.*2104T>C rs886052033
NM_000293.3(PHKB):c.*221C>T
NM_000293.3(PHKB):c.*226A>G
NM_000293.3(PHKB):c.*279C>T rs140112731
NM_000293.3(PHKB):c.*323G>C rs886052024
NM_000293.3(PHKB):c.*345C>T rs757393313
NM_000293.3(PHKB):c.*349C>T rs886052025
NM_000293.3(PHKB):c.*358_*360del rs886052026
NM_000293.3(PHKB):c.*405G>T
NM_000293.3(PHKB):c.*523T>C rs886052027
NM_000293.3(PHKB):c.*590A>G
NM_000293.3(PHKB):c.*595G>A rs563945926
NM_000293.3(PHKB):c.*610_*611TA[1] rs201839105
NM_000293.3(PHKB):c.*641C>A rs117861728
NM_000293.3(PHKB):c.*740C>T rs184521822
NM_000293.3(PHKB):c.*741G>A
NM_000293.3(PHKB):c.*915G>A rs151262633
NM_000293.3(PHKB):c.*982del rs886052029
NM_000293.3(PHKB):c.*989A>T
NM_000293.3(PHKB):c.*991A>G
NM_000293.3(PHKB):c.1054C>G (p.Pro352Ala)
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter) rs371296953
NM_000293.3(PHKB):c.1117A>G (p.Met373Val)
NM_000293.3(PHKB):c.1120A>G (p.Ile374Val)
NM_000293.3(PHKB):c.1121T>C (p.Ile374Thr)
NM_000293.3(PHKB):c.1126+14T>G rs28691569
NM_000293.3(PHKB):c.1127-14A>G rs185628131
NM_000293.3(PHKB):c.1153G>A (p.Val385Ile)
NM_000293.3(PHKB):c.1204+9G>T rs200832185
NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln)
NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter) rs121918021
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln)
NM_000293.3(PHKB):c.1350C>T (p.Ile450=) rs199941695
NM_000293.3(PHKB):c.1351G>A (p.Ala451Thr)
NM_000293.3(PHKB):c.1363+13G>T rs117536391
NM_000293.3(PHKB):c.1364-10T>C rs199899291
NM_000293.3(PHKB):c.1364-2A>G
NM_000293.3(PHKB):c.1378A>T (p.Ser460Cys) rs201217052
NM_000293.3(PHKB):c.1405C>T (p.Arg469Cys)
NM_000293.3(PHKB):c.1446G>A (p.Arg482=) rs149812232
NM_000293.3(PHKB):c.1458+16A>G rs371140883
NM_000293.3(PHKB):c.1459-9G>T rs201995780
NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr) rs147021608
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953
NM_000293.3(PHKB):c.1584A>G (p.Ile528Met)
NM_000293.3(PHKB):c.1631A>G (p.Asn544Ser)
NM_000293.3(PHKB):c.1730C>T (p.Pro577Leu) rs775984009
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242
NM_000293.3(PHKB):c.1748G>A (p.Ser583Asn) rs1567341136
NM_000293.3(PHKB):c.1759A>C (p.Met587Leu) rs140636792
NM_000293.3(PHKB):c.1760T>C (p.Met587Thr) rs886052022
NM_000293.3(PHKB):c.1797+1G>C
NM_000293.3(PHKB):c.1797+8C>T rs77462273
NM_000293.3(PHKB):c.1797+9G>A rs746001808
NM_000293.3(PHKB):c.1802C>T (p.Ala601Val) rs192099645
NM_000293.3(PHKB):c.1894A>G (p.Asn632Asp)
NM_000293.3(PHKB):c.1964G>A (p.Arg655His)
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.1972-7G>A rs765332910
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg) rs142381554
NM_000293.3(PHKB):c.2106C>T (p.Thr702=)
NM_000293.3(PHKB):c.2136G>A (p.Pro712=) rs200274360
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser)
NM_000293.3(PHKB):c.2196+14A>G rs751084282
NM_000293.3(PHKB):c.2197-10A>T
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357
NM_000293.3(PHKB):c.2245A>G (p.Lys749Glu)
NM_000293.3(PHKB):c.2278+15C>G rs201402032
NM_000293.3(PHKB):c.2283C>T (p.Thr761=)
NM_000293.3(PHKB):c.2284G>A (p.Val762Ile) rs56010117
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943
NM_000293.3(PHKB):c.2427+1014G>A
NM_000293.3(PHKB):c.2427+1045del
NM_000293.3(PHKB):c.2427+964del rs762091938
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val) rs9934849
NM_000293.3(PHKB):c.2532G>A (p.Glu844=) rs140117779
NM_000293.3(PHKB):c.2544C>T (p.Val848=) rs200981011
NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala)
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg) rs150902092
NM_000293.3(PHKB):c.2673C>T (p.Gly891=)
NM_000293.3(PHKB):c.2674G>A (p.Gly892Arg)
NM_000293.3(PHKB):c.2677G>C (p.Asp893His)
NM_000293.3(PHKB):c.2710C>T (p.Pro904Ser) rs1400548271
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg) rs886052023
NM_000293.3(PHKB):c.2766-7G>A rs199719186
NM_000293.3(PHKB):c.2766-8T>C rs186710481
NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys)
NM_000293.3(PHKB):c.2791G>A (p.Asp931Asn)
NM_000293.3(PHKB):c.2819G>C (p.Gly940Ala)
NM_000293.3(PHKB):c.2832A>G (p.Arg944=)
NM_000293.3(PHKB):c.2882A>T (p.Lys961Met) rs371541668
NM_000293.3(PHKB):c.2995G>A (p.Val999Ile)
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile)
NM_000293.3(PHKB):c.3039C>A (p.Asn1013Lys) rs151222947
NM_000293.3(PHKB):c.3039C>T (p.Asn1013=)
NM_000293.3(PHKB):c.306-2A>G rs797044442
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964
NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys)
NM_000293.3(PHKB):c.3144+12_3144+13insT rs757614728
NM_000293.3(PHKB):c.3144+12dup rs1555500966
NM_000293.3(PHKB):c.3144+32_3144+34dup rs5816579
NM_000293.3(PHKB):c.3144+34dup rs5816579
NM_000293.3(PHKB):c.3175C>T (p.Pro1059Ser)
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) rs137869198
NM_000293.3(PHKB):c.3259G>A (p.Asp1087Asn)
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg) rs763764574
NM_000293.3(PHKB):c.3267G>A (p.Pro1089=) rs146134171
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022
NM_000293.3(PHKB):c.365T>C (p.Met122Thr)
NM_000293.3(PHKB):c.370G>C (p.Gly124Arg) rs749597903
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys) rs202167409
NM_000293.3(PHKB):c.39G>A (p.Trp13Ter) rs141733590
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825
NM_000293.3(PHKB):c.405+8_405+10del
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys) rs762531075
NM_000293.3(PHKB):c.436A>G (p.Thr146Ala) rs146558295
NM_000293.3(PHKB):c.445C>T (p.Leu149Phe)
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) rs144211929
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333
NM_000293.3(PHKB):c.522del (p.Val175fs) rs1242540921
NM_000293.3(PHKB):c.530T>C (p.Leu177Pro)
NM_000293.3(PHKB):c.545T>G (p.Leu182Arg)
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785
NM_000293.3(PHKB):c.595-5T>G rs369184808
NM_000293.3(PHKB):c.604A>G (p.Ile202Val)
NM_000293.3(PHKB):c.632G>A (p.Arg211Lys)
NM_000293.3(PHKB):c.703C>T (p.His235Tyr) rs886052021
NM_000293.3(PHKB):c.710+12A>C
NM_000293.3(PHKB):c.713C>T (p.Ser238Leu)
NM_000293.3(PHKB):c.714G>A (p.Ser238=) rs772326970
NM_000293.3(PHKB):c.716T>C (p.Val239Ala) rs761032231
NM_000293.3(PHKB):c.76+2537G>A
NM_000293.3(PHKB):c.76+2T>C rs1303617854
NM_000293.3(PHKB):c.77-7del rs754758968
NM_000293.3(PHKB):c.775-6G>C rs56268318
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala) rs137946010
NM_000293.3(PHKB):c.820C>T (p.Arg274Cys) rs781197907
NM_000293.3(PHKB):c.870+10T>A rs144932435
NM_000293.3(PHKB):c.870+7C>T
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser)
NM_000293.3(PHKB):c.893C>T (p.Pro298Leu)
NM_000293.3(PHKB):c.8G>C (p.Gly3Ala)
NM_000293.3(PHKB):c.914T>C (p.Phe305Ser) rs746454503
NM_000293.3(PHKB):c.932T>C (p.Val311Ala) rs149685822
NM_000293.3:c.(76+1_77-1)_(1068+1_1069-1)del
NM_000293.3:c.(?_-1)_(1068+1_1069-1)del
PHKB, 1-BP INS

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