ClinVar Miner

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

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 482
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000293.3(PHKB):c.*641C>A rs117861728 0.00962
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000293.3(PHKB):c.*915G>A rs151262633 0.00411
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_000293.3(PHKB):c.*989A>T rs530003571 0.00366
NM_000293.3(PHKB):c.1127-14A>G rs185628131 0.00258
NM_000293.3(PHKB):c.*590A>G rs143720939 0.00234
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333 0.00205
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825 0.00176
NM_000293.3(PHKB):c.1574C>A (p.Pro525His) rs79509460 0.00165
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785 0.00165
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_000293.3(PHKB):c.1458+16A>G rs371140883 0.00093
NM_000293.3(PHKB):c.2284G>A (p.Val762Ile) rs56010117 0.00087
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg) rs142381554 0.00084
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242 0.00066
NM_000293.3(PHKB):c.1803G>A (p.Ala601=) rs35690654 0.00048
NM_000293.3(PHKB):c.2674G>A (p.Gly892Arg) rs149983469 0.00037
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) rs137869198 0.00034
NM_000293.3(PHKB):c.1364-10T>C rs199899291 0.00029
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556 0.00029
NM_000293.3(PHKB):c.2766-7G>A rs199719186 0.00026
NM_000293.3(PHKB):c.1797+8C>T rs77462273 0.00023
NM_000293.3(PHKB):c.1204+9G>T rs200832185 0.00019
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg) rs150902092 0.00019
NM_000293.3(PHKB):c.2445T>C (p.Phe815=) rs61494991 0.00017
NM_000293.3(PHKB):c.1609-20T>C rs374125947 0.00016
NM_000293.3(PHKB):c.2766-8T>C rs186710481 0.00016
NM_000293.3(PHKB):c.2197-10A>T rs750018974 0.00013
NM_000293.3(PHKB):c.1759A>C (p.Met587Leu) rs140636792 0.00011
NM_000293.3(PHKB):c.714G>A (p.Ser238=) rs772326970 0.00010
NM_000293.3(PHKB):c.1798-20T>C rs758115079 0.00009
NM_000293.3(PHKB):c.2427+969C>T rs1131063 0.00009
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys) rs202167409 0.00009
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) rs144211929 0.00009
NM_000293.3(PHKB):c.321C>T (p.Asp107=) rs148782229 0.00008
NM_000293.3(PHKB):c.932T>C (p.Val311Ala) rs149685822 0.00008
NM_000293.3(PHKB):c.1599G>A (p.Glu533=) rs756341301 0.00006
NM_000293.3(PHKB):c.2136G>A (p.Pro712=) rs200274360 0.00006
NM_000293.3(PHKB):c.1972-7G>A rs765332910 0.00005
NM_000293.3(PHKB):c.2673C>T (p.Gly891=) rs201038140 0.00005
NM_000293.3(PHKB):c.306-15A>G rs372436374 0.00005
NM_000293.3(PHKB):c.2689T>C (p.Leu897=) rs369059693 0.00004
NM_000293.3(PHKB):c.2958G>A (p.Thr986=) rs748651257 0.00004
NM_000293.3(PHKB):c.775-10C>G rs753672973 0.00004
NM_000293.3(PHKB):c.775-8C>G rs780221944 0.00004
NM_000293.3(PHKB):c.870+10T>A rs144932435 0.00004
NM_000293.3(PHKB):c.2343G>A (p.Ala781=) rs764952326 0.00003
NM_000293.3(PHKB):c.2352C>T (p.Tyr784=) rs570705767 0.00003
NM_000293.3(PHKB):c.2856G>A (p.Thr952=) rs191428598 0.00003
NM_000293.3(PHKB):c.447T>C (p.Leu149=) rs374963473 0.00003
NM_000293.3(PHKB):c.870+7C>T rs372819242 0.00003
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000293.3(PHKB):c.2544C>T (p.Val848=) rs200981011 0.00002
NM_000293.3(PHKB):c.678A>G (p.Lys226=) rs762504730 0.00002
NM_000293.3(PHKB):c.1121T>C (p.Ile374Thr) rs78667243 0.00001
NM_000293.3(PHKB):c.1204+12T>G rs1972080009 0.00001
NM_000293.3(PHKB):c.1514+18G>C rs760376574 0.00001
NM_000293.3(PHKB):c.1716T>C (p.Thr572=) rs746052855 0.00001
NM_000293.3(PHKB):c.1740C>T (p.Phe580=) rs1279199570 0.00001
NM_000293.3(PHKB):c.1797+9G>A rs746001808 0.00001
NM_000293.3(PHKB):c.1972-8C>T rs759445171 0.00001
NM_000293.3(PHKB):c.1977A>T (p.Leu659=) rs758601628 0.00001
NM_000293.3(PHKB):c.2106C>T (p.Thr702=) rs1248967430 0.00001
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro) rs573384357 0.00001
NM_000293.3(PHKB):c.2196+14A>G rs751084282 0.00001
NM_000293.3(PHKB):c.2382C>T (p.Ser794=) rs1463366667 0.00001
NM_000293.3(PHKB):c.2676A>G (p.Gly892=) rs756848227 0.00001
NM_000293.3(PHKB):c.3042C>T (p.Pro1014=) rs149234185 0.00001
NM_000293.3(PHKB):c.710+12A>C rs542318460 0.00001
NM_000293.3(PHKB):c.710+7T>G rs976138000 0.00001
NM_000293.3(PHKB):c.77-7del rs754758968 0.00001
NM_000293.3(PHKB):c.1011G>T (p.Gly337=)
NM_000293.3(PHKB):c.1023A>G (p.Ser341=)
NM_000293.3(PHKB):c.1024T>C (p.Leu342=)
NM_000293.3(PHKB):c.1029A>G (p.Glu343=)
NM_000293.3(PHKB):c.105T>C (p.Ile35=)
NM_000293.3(PHKB):c.1068+13A>C
NM_000293.3(PHKB):c.1068+19T>C
NM_000293.3(PHKB):c.1069-10T>C
NM_000293.3(PHKB):c.1069-15T>C
NM_000293.3(PHKB):c.1069-9C>G
NM_000293.3(PHKB):c.1071A>G (p.Leu357=)
NM_000293.3(PHKB):c.1098C>T (p.Pro366=)
NM_000293.3(PHKB):c.1126+11T>C
NM_000293.3(PHKB):c.1126+1GTAA[3]
NM_000293.3(PHKB):c.1126+30_1126+52del rs558528097
NM_000293.3(PHKB):c.1126+8A>G
NM_000293.3(PHKB):c.1126+9G>A
NM_000293.3(PHKB):c.1127-7A>G
NM_000293.3(PHKB):c.1134T>C (p.Phe378=)
NM_000293.3(PHKB):c.1179T>A (p.Thr393=) rs2151700466
NM_000293.3(PHKB):c.1185A>G (p.Val395=)
NM_000293.3(PHKB):c.1197C>T (p.Thr399=)
NM_000293.3(PHKB):c.1204+11T>C
NM_000293.3(PHKB):c.1204+16T>A
NM_000293.3(PHKB):c.1204+19G>T
NM_000293.3(PHKB):c.1204+7T>C
NM_000293.3(PHKB):c.1204+8dup
NM_000293.3(PHKB):c.1204+9G>A
NM_000293.3(PHKB):c.1205-12del
NM_000293.3(PHKB):c.1205-14T>G
NM_000293.3(PHKB):c.1205-4A>G
NM_000293.3(PHKB):c.1205-8C>T
NM_000293.3(PHKB):c.1212T>G (p.Pro404=)
NM_000293.3(PHKB):c.1236G>A (p.Val412=)
NM_000293.3(PHKB):c.1239A>C (p.Pro413=)
NM_000293.3(PHKB):c.1257T>C (p.Tyr419=)
NM_000293.3(PHKB):c.126T>C (p.Asn42=)
NM_000293.3(PHKB):c.1326T>C (p.Leu442=)
NM_000293.3(PHKB):c.1341T>G (p.Leu447=)
NM_000293.3(PHKB):c.1363+20A>G
NM_000293.3(PHKB):c.1364-11_1364-9del
NM_000293.3(PHKB):c.1364-11del
NM_000293.3(PHKB):c.1364-14C>G
NM_000293.3(PHKB):c.1364-16C>G
NM_000293.3(PHKB):c.1364-5T>C
NM_000293.3(PHKB):c.1374T>C (p.Leu458=)
NM_000293.3(PHKB):c.1380T>C (p.Ser460=)
NM_000293.3(PHKB):c.1389C>T (p.Asp463=)
NM_000293.3(PHKB):c.1404G>A (p.Gln468=)
NM_000293.3(PHKB):c.1413C>G (p.Val471=)
NM_000293.3(PHKB):c.1428A>G (p.Gln476=)
NM_000293.3(PHKB):c.1431T>C (p.Arg477=)
NM_000293.3(PHKB):c.1434C>T (p.Asn478=)
NM_000293.3(PHKB):c.1437G>A (p.Val479=)
NM_000293.3(PHKB):c.1458+10T>C
NM_000293.3(PHKB):c.1458+20C>A
NM_000293.3(PHKB):c.1459-10T>C
NM_000293.3(PHKB):c.1459-13T>C
NM_000293.3(PHKB):c.1459-17del
NM_000293.3(PHKB):c.1459-18C>G
NM_000293.3(PHKB):c.1459-5T>C
NM_000293.3(PHKB):c.1485T>C (p.Val495=)
NM_000293.3(PHKB):c.1514+11C>G
NM_000293.3(PHKB):c.1514+12A>T
NM_000293.3(PHKB):c.1514+20G>T
NM_000293.3(PHKB):c.1515-17A>G
NM_000293.3(PHKB):c.1515-8A>C
NM_000293.3(PHKB):c.1530G>T (p.Leu510=)
NM_000293.3(PHKB):c.1533C>T (p.Asn511=)
NM_000293.3(PHKB):c.1536A>G (p.Thr512=)
NM_000293.3(PHKB):c.1539T>C (p.Tyr513=)
NM_000293.3(PHKB):c.1557T>C (p.Thr519=)
NM_000293.3(PHKB):c.1563A>G (p.Gln521=)
NM_000293.3(PHKB):c.1596G>A (p.Gln532=)
NM_000293.3(PHKB):c.1608+13G>A
NM_000293.3(PHKB):c.1608+13G>T
NM_000293.3(PHKB):c.1608+18T>C
NM_000293.3(PHKB):c.1609-14C>G
NM_000293.3(PHKB):c.1609-14C>T
NM_000293.3(PHKB):c.1609-17A>C
NM_000293.3(PHKB):c.1609-18C>T
NM_000293.3(PHKB):c.1609-19A>G
NM_000293.3(PHKB):c.1609-7C>A
NM_000293.3(PHKB):c.1609-9G>A
NM_000293.3(PHKB):c.1611T>G (p.Ala537=)
NM_000293.3(PHKB):c.1615T>C (p.Leu539=)
NM_000293.3(PHKB):c.1647C>T (p.Leu549=)
NM_000293.3(PHKB):c.1650T>A (p.Ser550=)
NM_000293.3(PHKB):c.1665G>A (p.Arg555=)
NM_000293.3(PHKB):c.1680C>G (p.Leu560=)
NM_000293.3(PHKB):c.1680C>T (p.Leu560=)
NM_000293.3(PHKB):c.1686A>G (p.Thr562=)
NM_000293.3(PHKB):c.1692+19C>T
NM_000293.3(PHKB):c.1692+20A>T
NM_000293.3(PHKB):c.1693-20T>G
NM_000293.3(PHKB):c.1693-4A>C
NM_000293.3(PHKB):c.1693-7C>T
NM_000293.3(PHKB):c.1693-8C>T
NM_000293.3(PHKB):c.1693-9C>T
NM_000293.3(PHKB):c.1698T>C (p.Tyr566=)
NM_000293.3(PHKB):c.1707A>G (p.Leu569=)
NM_000293.3(PHKB):c.1731G>A (p.Pro577=)
NM_000293.3(PHKB):c.1731G>T (p.Pro577=)
NM_000293.3(PHKB):c.1779G>T (p.Leu593=)
NM_000293.3(PHKB):c.1782G>A (p.Leu594=)
NM_000293.3(PHKB):c.1782G>T (p.Leu594=)
NM_000293.3(PHKB):c.1788T>C (p.Asp596=)
NM_000293.3(PHKB):c.1797+11A>G
NM_000293.3(PHKB):c.1797+12A>G
NM_000293.3(PHKB):c.1797+13C>T
NM_000293.3(PHKB):c.1797+19T>C
NM_000293.3(PHKB):c.1797+20C>T
NM_000293.3(PHKB):c.1798-19A>G
NM_000293.3(PHKB):c.1798-9G>C
NM_000293.3(PHKB):c.1800T>C (p.Asn600=)
NM_000293.3(PHKB):c.1818A>G (p.Lys606=)
NM_000293.3(PHKB):c.1824T>C (p.Tyr608=)
NM_000293.3(PHKB):c.1845A>C (p.Pro615=)
NM_000293.3(PHKB):c.1860C>T (p.Leu620=)
NM_000293.3(PHKB):c.1880+11A>G
NM_000293.3(PHKB):c.1881-10T>C
NM_000293.3(PHKB):c.1881-11A>G
NM_000293.3(PHKB):c.1881-13_1881-10del
NM_000293.3(PHKB):c.1881-9A>G
NM_000293.3(PHKB):c.1887C>T (p.Ser629=)
NM_000293.3(PHKB):c.1893C>T (p.Phe631=)
NM_000293.3(PHKB):c.1899C>T (p.Pro633=)
NM_000293.3(PHKB):c.1917A>G (p.Ala639=)
NM_000293.3(PHKB):c.1926A>G (p.Lys642=)
NM_000293.3(PHKB):c.1929A>G (p.Lys643=)
NM_000293.3(PHKB):c.1938T>C (p.Ile646=)
NM_000293.3(PHKB):c.1941A>T (p.Gly647=) rs551223829
NM_000293.3(PHKB):c.1956T>C (p.His652=)
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.1971+19G>A
NM_000293.3(PHKB):c.1972-11T>A
NM_000293.3(PHKB):c.1972-13G>A
NM_000293.3(PHKB):c.1972-13G>T
NM_000293.3(PHKB):c.1972-14C>T
NM_000293.3(PHKB):c.1972-9A>G
NM_000293.3(PHKB):c.1992G>A (p.Val664=)
NM_000293.3(PHKB):c.1992G>T (p.Val664=)
NM_000293.3(PHKB):c.2019C>T (p.Ile673=)
NM_000293.3(PHKB):c.2033+11T>G
NM_000293.3(PHKB):c.2033+15G>A
NM_000293.3(PHKB):c.2034-10T>G
NM_000293.3(PHKB):c.2034-16T>C
NM_000293.3(PHKB):c.2034-19C>T
NM_000293.3(PHKB):c.2034-20C>A
NM_000293.3(PHKB):c.2046T>C (p.Phe682=)
NM_000293.3(PHKB):c.2064A>G (p.Leu688=)
NM_000293.3(PHKB):c.2073C>T (p.Pro691=)
NM_000293.3(PHKB):c.2094G>A (p.Arg698=)
NM_000293.3(PHKB):c.2106C>A (p.Thr702=)
NM_000293.3(PHKB):c.2175C>T (p.His725=)
NM_000293.3(PHKB):c.2181T>C (p.Ile727=)
NM_000293.3(PHKB):c.2196+18C>T
NM_000293.3(PHKB):c.2196+19C>T
NM_000293.3(PHKB):c.2197-10A>G
NM_000293.3(PHKB):c.2197-14A>T
NM_000293.3(PHKB):c.2197-18C>G
NM_000293.3(PHKB):c.2197-18C>T
NM_000293.3(PHKB):c.2208T>C (p.Cys736=)
NM_000293.3(PHKB):c.2214T>C (p.Ala738=)
NM_000293.3(PHKB):c.2229G>A (p.Leu743=)
NM_000293.3(PHKB):c.2253A>G (p.Glu751=)
NM_000293.3(PHKB):c.2256C>T (p.Gly752=)
NM_000293.3(PHKB):c.2259C>T (p.Pro753=)
NM_000293.3(PHKB):c.2278+11A>G
NM_000293.3(PHKB):c.2278+16T>C
NM_000293.3(PHKB):c.2278+8T>G
NM_000293.3(PHKB):c.2278+9G>T rs1402083021
NM_000293.3(PHKB):c.2279-6G>A
NM_000293.3(PHKB):c.2279-7T>C
NM_000293.3(PHKB):c.2283C>A (p.Thr761=)
NM_000293.3(PHKB):c.2283C>T (p.Thr761=) rs775960919
NM_000293.3(PHKB):c.2295C>T (p.His765=)
NM_000293.3(PHKB):c.2301G>A (p.Glu767=)
NM_000293.3(PHKB):c.2331A>G (p.Lys777=)
NM_000293.3(PHKB):c.2336+13G>T
NM_000293.3(PHKB):c.2336+18T>C
NM_000293.3(PHKB):c.2336+19G>A
NM_000293.3(PHKB):c.2336+19G>T
NM_000293.3(PHKB):c.2336+22_2336+24del
NM_000293.3(PHKB):c.2337-12T>G
NM_000293.3(PHKB):c.2346G>A (p.Val782=)
NM_000293.3(PHKB):c.2361A>G (p.Ala787=)
NM_000293.3(PHKB):c.2370G>A (p.Gln790=)
NM_000293.3(PHKB):c.2385T>C (p.Ser795=)
NM_000293.3(PHKB):c.2418T>C (p.His806=)
NM_000293.3(PHKB):c.2424A>G (p.Lys808=)
NM_000293.3(PHKB):c.2427+1017T>C
NM_000293.3(PHKB):c.2427+1021C>T
NM_000293.3(PHKB):c.2427+1024A>G
NM_000293.3(PHKB):c.2427+1034A>G
NM_000293.3(PHKB):c.2427+1051C>A
NM_000293.3(PHKB):c.2427+1053A>G rs375085518
NM_000293.3(PHKB):c.2427+1064A>G
NM_000293.3(PHKB):c.2427+1068G>T
NM_000293.3(PHKB):c.2427+1069C>T
NM_000293.3(PHKB):c.2427+1071T>C
NM_000293.3(PHKB):c.2427+17T>C
NM_000293.3(PHKB):c.2427+947G>A
NM_000293.3(PHKB):c.2427+947G>C
NM_000293.3(PHKB):c.2427+952C>A
NM_000293.3(PHKB):c.2427+952C>G
NM_000293.3(PHKB):c.2427+959G>A
NM_000293.3(PHKB):c.2427+962C>A
NM_000293.3(PHKB):c.2427+962C>T
NM_000293.3(PHKB):c.2427+963C>G
NM_000293.3(PHKB):c.2427+964del rs762091938
NM_000293.3(PHKB):c.2427+970G>A
NM_000293.3(PHKB):c.2427+977C>T
NM_000293.3(PHKB):c.2427+980C>T
NM_000293.3(PHKB):c.2427+981G>A
NM_000293.3(PHKB):c.2427+981G>T
NM_000293.3(PHKB):c.2427+986G>A
NM_000293.3(PHKB):c.2427+990G>A
NM_000293.3(PHKB):c.2428-11G>A
NM_000293.3(PHKB):c.2428-13C>A
NM_000293.3(PHKB):c.2428-13C>G
NM_000293.3(PHKB):c.2428-4G>T
NM_000293.3(PHKB):c.2430A>G (p.Val810=)
NM_000293.3(PHKB):c.2448G>A (p.Gly816=)
NM_000293.3(PHKB):c.2520C>T (p.Asn840=)
NM_000293.3(PHKB):c.2538A>G (p.Glu846=)
NM_000293.3(PHKB):c.2541G>A (p.Ala847=)
NM_000293.3(PHKB):c.2541G>C (p.Ala847=)
NM_000293.3(PHKB):c.2550G>A (p.Gln850=)
NM_000293.3(PHKB):c.2559G>C (p.Leu853=)
NM_000293.3(PHKB):c.2574C>A (p.Gly858=)
NM_000293.3(PHKB):c.2583C>A (p.Ile861=)
NM_000293.3(PHKB):c.2625A>C (p.Arg875=)
NM_000293.3(PHKB):c.2628C>T (p.Ile876=)
NM_000293.3(PHKB):c.2630+13del
NM_000293.3(PHKB):c.2630+17G>T
NM_000293.3(PHKB):c.2630+7G>A
NM_000293.3(PHKB):c.2631-14C>T
NM_000293.3(PHKB):c.2631-15C>T
NM_000293.3(PHKB):c.2631-16C>G
NM_000293.3(PHKB):c.2631-6T>A
NM_000293.3(PHKB):c.2637C>T (p.Ile879=)
NM_000293.3(PHKB):c.2652G>A (p.Glu884=)
NM_000293.3(PHKB):c.2667C>A (p.Ile889=)
NM_000293.3(PHKB):c.2709A>G (p.Ser903=)
NM_000293.3(PHKB):c.2745G>A (p.Leu915=)
NM_000293.3(PHKB):c.2760T>C (p.Asn920=)
NM_000293.3(PHKB):c.2765+10G>A
NM_000293.3(PHKB):c.2765+11C>A
NM_000293.3(PHKB):c.2765+11C>T
NM_000293.3(PHKB):c.2765+14C>G
NM_000293.3(PHKB):c.2765+14C>T
NM_000293.3(PHKB):c.2765+15T>C
NM_000293.3(PHKB):c.2765+7A>C
NM_000293.3(PHKB):c.2766-12C>T
NM_000293.3(PHKB):c.2766-14G>C
NM_000293.3(PHKB):c.2766-18A>G
NM_000293.3(PHKB):c.2766-5T>A
NM_000293.3(PHKB):c.2766-9T>C
NM_000293.3(PHKB):c.2778C>T (p.Asn926=)
NM_000293.3(PHKB):c.2790C>T (p.Ile930=)
NM_000293.3(PHKB):c.2817C>T (p.Thr939=)
NM_000293.3(PHKB):c.2835G>A (p.Val945=)
NM_000293.3(PHKB):c.2856G>T (p.Thr952=)
NM_000293.3(PHKB):c.2871T>A (p.Ile957=)
NM_000293.3(PHKB):c.2895+13C>T
NM_000293.3(PHKB):c.2895+14A>G
NM_000293.3(PHKB):c.2895+15T>C
NM_000293.3(PHKB):c.2896-19G>A
NM_000293.3(PHKB):c.2901A>C (p.Pro967=)
NM_000293.3(PHKB):c.2907G>A (p.Leu969=)
NM_000293.3(PHKB):c.2925T>C (p.Tyr975=)
NM_000293.3(PHKB):c.2959T>C (p.Leu987=)
NM_000293.3(PHKB):c.2970T>C (p.Ile990=)
NM_000293.3(PHKB):c.2982G>A (p.Gln994=)
NM_000293.3(PHKB):c.2985C>T (p.Tyr995=)
NM_000293.3(PHKB):c.2994C>T (p.Ile998=)
NM_000293.3(PHKB):c.3003+12G>A
NM_000293.3(PHKB):c.3003+12del
NM_000293.3(PHKB):c.3004-11G>C
NM_000293.3(PHKB):c.3004-18A>G
NM_000293.3(PHKB):c.3004-7C>G
NM_000293.3(PHKB):c.3015T>G (p.Val1005=)
NM_000293.3(PHKB):c.3018A>G (p.Val1006=)
NM_000293.3(PHKB):c.3021C>A (p.Ser1007=)
NM_000293.3(PHKB):c.3024T>C (p.Ile1008=)
NM_000293.3(PHKB):c.3039C>T (p.Asn1013=) rs151222947
NM_000293.3(PHKB):c.3051A>G (p.Glu1017=)
NM_000293.3(PHKB):c.306-15A>C
NM_000293.3(PHKB):c.306-4C>T
NM_000293.3(PHKB):c.3066A>G (p.Val1022=)
NM_000293.3(PHKB):c.3079C>T (p.Leu1027=)
NM_000293.3(PHKB):c.307C>A (p.Arg103=)
NM_000293.3(PHKB):c.3108A>G (p.Gln1036=)
NM_000293.3(PHKB):c.3144+11A>G
NM_000293.3(PHKB):c.3144+17_3144+18insC
NM_000293.3(PHKB):c.3144+17_3144+18insCT
NM_000293.3(PHKB):c.3144+23_3144+34del
NM_000293.3(PHKB):c.3144+24_3144+34del
NM_000293.3(PHKB):c.3144+7A>G
NM_000293.3(PHKB):c.3144+9A>G
NM_000293.3(PHKB):c.3145-14G>A
NM_000293.3(PHKB):c.3145-15dup
NM_000293.3(PHKB):c.3145-20C>A
NM_000293.3(PHKB):c.3213G>A (p.Lys1071=)
NM_000293.3(PHKB):c.3228G>T (p.Leu1076=)
NM_000293.3(PHKB):c.3231G>A (p.Leu1077=)
NM_000293.3(PHKB):c.3234G>A (p.Leu1078=)
NM_000293.3(PHKB):c.3282G>A (p.Ter1094=)
NM_000293.3(PHKB):c.330G>A (p.Arg110=)
NM_000293.3(PHKB):c.363C>T (p.Cys121=)
NM_000293.3(PHKB):c.381C>T (p.Tyr127=)
NM_000293.3(PHKB):c.399C>T (p.Ala133=)
NM_000293.3(PHKB):c.405+10T>G
NM_000293.3(PHKB):c.405+11G>T
NM_000293.3(PHKB):c.405+14G>A
NM_000293.3(PHKB):c.405+15T>C
NM_000293.3(PHKB):c.405+16G>T
NM_000293.3(PHKB):c.405+19G>A
NM_000293.3(PHKB):c.405+7C>T
NM_000293.3(PHKB):c.405+8A>G
NM_000293.3(PHKB):c.405+9T>A
NM_000293.3(PHKB):c.405+9T>C
NM_000293.3(PHKB):c.406-14A>G
NM_000293.3(PHKB):c.432C>T (p.Arg144=)
NM_000293.3(PHKB):c.438A>G (p.Thr146=)
NM_000293.3(PHKB):c.441A>T (p.Thr147=)
NM_000293.3(PHKB):c.444T>C (p.Cys148=)
NM_000293.3(PHKB):c.474A>G (p.Gly158=)
NM_000293.3(PHKB):c.513+11A>G
NM_000293.3(PHKB):c.513+14A>T
NM_000293.3(PHKB):c.513+17C>T
NM_000293.3(PHKB):c.514-12T>C
NM_000293.3(PHKB):c.514-19_514-15del
NM_000293.3(PHKB):c.525G>A (p.Val175=)
NM_000293.3(PHKB):c.543C>T (p.Tyr181=)
NM_000293.3(PHKB):c.546T>G (p.Leu182=)
NM_000293.3(PHKB):c.570C>A (p.Leu190=)
NM_000293.3(PHKB):c.594+10C>T
NM_000293.3(PHKB):c.594+9T>C
NM_000293.3(PHKB):c.595-13C>A
NM_000293.3(PHKB):c.595-18C>T
NM_000293.3(PHKB):c.595-6T>C
NM_000293.3(PHKB):c.595-7C>A
NM_000293.3(PHKB):c.597C>T (p.Val199=)
NM_000293.3(PHKB):c.615T>C (p.Leu205=)
NM_000293.3(PHKB):c.618A>G (p.Val206=)
NM_000293.3(PHKB):c.636T>C (p.Val212=)
NM_000293.3(PHKB):c.642T>C (p.Arg214=)
NM_000293.3(PHKB):c.645G>T (p.Val215=)
NM_000293.3(PHKB):c.672A>G (p.Gly224=)
NM_000293.3(PHKB):c.687T>C (p.Asn229=)
NM_000293.3(PHKB):c.696A>G (p.Thr232=)
NM_000293.3(PHKB):c.708G>A (p.Ser236=)
NM_000293.3(PHKB):c.710+14T>A
NM_000293.3(PHKB):c.710+19A>C
NM_000293.3(PHKB):c.710+20G>A
NM_000293.3(PHKB):c.710+20G>T
NM_000293.3(PHKB):c.711-10T>C
NM_000293.3(PHKB):c.711-12T>A
NM_000293.3(PHKB):c.711-4T>C
NM_000293.3(PHKB):c.714G>T (p.Ser238=) rs772326970
NM_000293.3(PHKB):c.720T>C (p.Gly240=)
NM_000293.3(PHKB):c.735T>C (p.Ala245=)
NM_000293.3(PHKB):c.738A>G (p.Leu246=)
NM_000293.3(PHKB):c.744A>C (p.Ala248=)
NM_000293.3(PHKB):c.76+18G>A
NM_000293.3(PHKB):c.76+20C>T
NM_000293.3(PHKB):c.76+2527T>A
NM_000293.3(PHKB):c.76+2530T>G
NM_000293.3(PHKB):c.76+2533A>C
NM_000293.3(PHKB):c.76+2542T>C
NM_000293.3(PHKB):c.76+2544C>T
NM_000293.3(PHKB):c.76+2545G>C
NM_000293.3(PHKB):c.76+2551C>T
NM_000293.3(PHKB):c.76+2562G>C
NM_000293.3(PHKB):c.76+2568G>A
NM_000293.3(PHKB):c.76+2574G>C
NM_000293.3(PHKB):c.76+2575T>G
NM_000293.3(PHKB):c.76+2584C>A
NM_000293.3(PHKB):c.76+2585C>G
NM_000293.3(PHKB):c.76+2586A>G
NM_000293.3(PHKB):c.77-17T>C
NM_000293.3(PHKB):c.77-18T>C
NM_000293.3(PHKB):c.77-8T>C
NM_000293.3(PHKB):c.774+12G>A
NM_000293.3(PHKB):c.774+16C>T
NM_000293.3(PHKB):c.774+20G>A
NM_000293.3(PHKB):c.775-15T>G
NM_000293.3(PHKB):c.775-17T>G
NM_000293.3(PHKB):c.775-20T>G
NM_000293.3(PHKB):c.775-7T>C
NM_000293.3(PHKB):c.783G>A (p.Ser261=)
NM_000293.3(PHKB):c.798T>C (p.Phe266=)
NM_000293.3(PHKB):c.807C>T (p.Leu269=)
NM_000293.3(PHKB):c.81A>C (p.Ser27=)
NM_000293.3(PHKB):c.843G>A (p.Ser281=)
NM_000293.3(PHKB):c.870+12A>C
NM_000293.3(PHKB):c.870+15_870+17del
NM_000293.3(PHKB):c.871-20C>T
NM_000293.3(PHKB):c.871-5T>A
NM_000293.3(PHKB):c.871-5T>C
NM_000293.3(PHKB):c.871-7C>T
NM_000293.3(PHKB):c.871-8G>T
NM_000293.3(PHKB):c.876A>G (p.Thr292=)
NM_000293.3(PHKB):c.886C>T (p.Leu296=)
NM_000293.3(PHKB):c.906T>C (p.Tyr302=)
NM_000293.3(PHKB):c.921G>A (p.Leu307=)
NM_000293.3(PHKB):c.951T>C (p.Leu317=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.