ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease IXb

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 278
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.*1001G>A rs868394484 0.00997
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.574A>G (p.Ile192Val) rs117218785 0.00165
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_000293.3(PHKB):c.270C>T (p.Cys90=) rs139431568 0.00109
NM_000293.3(PHKB):c.*2075G>A rs189124531 0.00087
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242 0.00066
NM_000293.3(PHKB):c.436A>G (p.Thr146Ala) rs146558295 0.00051
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser) rs201360702 0.00048
NM_000293.3(PHKB):c.305+11G>T rs368293023 0.00041
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln) rs141379798 0.00036
NM_000293.3(PHKB):c.*279C>T rs140112731 0.00035
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.1631A>G (p.Asn544Ser) rs139383341 0.00029
NM_000293.3(PHKB):c.718G>A (p.Gly240Ser) rs147426858 0.00028
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala) rs137946010 0.00024
NM_000293.3(PHKB):c.8G>C (p.Gly3Ala) rs145047641 0.00024
NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala) rs142281844 0.00023
NM_000293.3(PHKB):c.*132G>A rs375856403 0.00019
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.*323G>C rs886052024 0.00018
NM_000293.3(PHKB):c.1568T>C (p.Val523Ala) rs774398701 0.00018
NM_000293.3(PHKB):c.2540C>T (p.Ala847Val) rs374731360 0.00017
NM_000293.3(PHKB):c.*991A>G rs951718946 0.00014
NM_000293.3(PHKB):c.2197-10A>T rs750018974 0.00013
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys) rs762531075 0.00013
NM_000293.3(PHKB):c.1350C>T (p.Ile450=) rs199941695 0.00012
NM_000293.3(PHKB):c.1741G>A (p.Asp581Asn) rs202127217 0.00012
NM_000293.3(PHKB):c.*741G>A rs1041235488 0.00011
NM_000293.3(PHKB):c.893C>T (p.Pro298Leu) rs558898797 0.00011
NM_000293.3(PHKB):c.*345C>T rs757393313 0.00010
NM_000293.3(PHKB):c.1378A>T (p.Ser460Cys) rs201217052 0.00010
NM_000293.3(PHKB):c.714G>A (p.Ser238=) rs772326970 0.00010
NM_000293.3(PHKB):c.1307G>A (p.Arg436His) rs143602657 0.00009
NM_000293.3(PHKB):c.3122G>A (p.Arg1041Gln) rs372327608 0.00009
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) rs144211929 0.00009
NM_000293.3(PHKB):c.*1783A>G rs886052032 0.00008
NM_000293.3(PHKB):c.1387G>C (p.Asp463His) rs150683838 0.00008
NM_000293.3(PHKB):c.932T>C (p.Val311Ala) rs149685822 0.00008
NM_000293.3(PHKB):c.*1839C>G rs981081630 0.00006
NM_000293.3(PHKB):c.*1915A>G rs919228154 0.00006
NM_000293.3(PHKB):c.1114A>G (p.Met372Val) rs758968989 0.00006
NM_000293.3(PHKB):c.1544T>C (p.Ile515Thr) rs141224055 0.00006
NM_000293.3(PHKB):c.2136G>A (p.Pro712=) rs200274360 0.00006
NM_000293.3(PHKB):c.2882A>T (p.Lys961Met) rs371541668 0.00006
NM_000293.3(PHKB):c.445C>T (p.Leu149Phe) rs370363309 0.00006
NM_000293.3(PHKB):c.*1709G>A rs1007478681 0.00005
NM_000293.3(PHKB):c.1730C>T (p.Pro577Leu) rs775984009 0.00005
NM_000293.3(PHKB):c.1972-7G>A rs765332910 0.00005
NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr) rs147021608 0.00004
NM_000293.3(PHKB):c.185T>C (p.Leu62Pro) rs773528597 0.00004
NM_000293.3(PHKB):c.229G>A (p.Gly77Ser) rs749953598 0.00004
NM_000293.3(PHKB):c.2626A>G (p.Ile876Val) rs545345880 0.00004
NM_000293.3(PHKB):c.271G>A (p.Ala91Thr) rs200339326 0.00004
NM_000293.3(PHKB):c.2995G>A (p.Val999Ile) rs375389167 0.00004
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp) rs760502380 0.00004
NM_000293.3(PHKB):c.3175C>T (p.Pro1059Ser) rs746809041 0.00004
NM_000293.3(PHKB):c.754T>C (p.Phe252Leu) rs373920188 0.00004
NM_000293.3(PHKB):c.604A>G (p.Ile202Val) rs367667135 0.00003
NM_000293.3(PHKB):c.914T>C (p.Phe305Ser) rs746454503 0.00003
NM_000293.3(PHKB):c.1120A>G (p.Ile374Val) rs1243574468 0.00002
NM_000293.3(PHKB):c.1153G>A (p.Val385Ile) rs981615352 0.00002
NM_000293.3(PHKB):c.134T>A (p.Leu45His) rs762053276 0.00002
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953 0.00002
NM_000293.3(PHKB):c.1894A>G (p.Asn632Asp) rs530842640 0.00002
NM_000293.3(PHKB):c.*349C>T rs886052025 0.00001
NM_000293.3(PHKB):c.*595G>A rs563945926 0.00001
NM_000293.3(PHKB):c.1274G>A (p.Gly425Asp) rs774768331 0.00001
NM_000293.3(PHKB):c.1351G>A (p.Ala451Thr) rs745821795 0.00001
NM_000293.3(PHKB):c.1405C>T (p.Arg469Cys) rs182398740 0.00001
NM_000293.3(PHKB):c.14C>T (p.Ala5Val) rs778015344 0.00001
NM_000293.3(PHKB):c.1797+9G>A rs746001808 0.00001
NM_000293.3(PHKB):c.1862T>C (p.Ile621Thr) rs1042750036 0.00001
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile) rs1555472064 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.2347C>T (p.Arg783Cys) rs143421326 0.00001
NM_000293.3(PHKB):c.2359G>C (p.Ala787Pro) rs1485645875 0.00001
NM_000293.3(PHKB):c.245C>G (p.Ala82Gly) rs754835322 0.00001
NM_000293.3(PHKB):c.2668C>T (p.Arg890Cys) rs555108367 0.00001
NM_000293.3(PHKB):c.2710C>T (p.Pro904Ser) rs1400548271 0.00001
NM_000293.3(PHKB):c.2818G>A (p.Gly940Arg) rs929325638 0.00001
NM_000293.3(PHKB):c.2819G>C (p.Gly940Ala) rs781357865 0.00001
NM_000293.3(PHKB):c.3030G>A (p.Leu1010=) rs1402815994 0.00001
NM_000293.3(PHKB):c.31G>A (p.Val11Met) rs1217081596 0.00001
NM_000293.3(PHKB):c.3214G>A (p.Ala1072Thr) rs769735460 0.00001
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022 0.00001
NM_000293.3(PHKB):c.365T>C (p.Met122Thr) rs1970349740 0.00001
NM_000293.3(PHKB):c.370G>C (p.Gly124Arg) rs749597903 0.00001
NM_000293.3(PHKB):c.522del (p.Val175fs) rs1242540921 0.00001
NM_000293.3(PHKB):c.595-5T>G rs369184808 0.00001
NM_000293.3(PHKB):c.727A>C (p.Lys243Gln) rs190737988 0.00001
NM_000293.3(PHKB):c.76+2T>C rs1303617854 0.00001
NM_000293.3(PHKB):c.820C>T (p.Arg274Cys) rs781197907 0.00001
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser) rs143805637 0.00001
NC_000016.9:g.(?_46694384)_(48258199_?)dup
NC_000016.9:g.(?_47531290)_(47531419_?)dup
NC_000016.9:g.(?_47682424)_(47684852_?)del
NC_000016.9:g.(?_47682424)_(47684852_?)dup
NC_000016.9:g.(?_47722932)_(47733277_?)dup
NM_000293.3(PHKB):c.*1007G>A rs1047494618
NM_000293.3(PHKB):c.*1105T>C rs1365256572
NM_000293.3(PHKB):c.*1253A>G rs1974232128
NM_000293.3(PHKB):c.*1262A>C rs886052030
NM_000293.3(PHKB):c.*2104T>C rs886052033
NM_000293.3(PHKB):c.*221C>T rs1974213779
NM_000293.3(PHKB):c.*405G>T rs1597192442
NM_000293.3(PHKB):c.*523T>C rs886052027
NM_000293.3(PHKB):c.100A>G (p.Ser34Gly)
NM_000293.3(PHKB):c.1031A>T (p.Asp344Val)
NM_000293.3(PHKB):c.1034C>G (p.Pro345Arg)
NM_000293.3(PHKB):c.1054C>G (p.Pro352Ala) rs1197477921
NM_000293.3(PHKB):c.1069-3T>C
NM_000293.3(PHKB):c.1097C>T (p.Pro366Leu)
NM_000293.3(PHKB):c.10del (p.Ala4fs)
NM_000293.3(PHKB):c.1117A>G (p.Met373Val) rs1972067736
NM_000293.3(PHKB):c.1127-6T>A
NM_000293.3(PHKB):c.1205-16T>G
NM_000293.3(PHKB):c.1205G>A (p.Gly402Glu)
NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln) rs1372877925
NM_000293.3(PHKB):c.1228T>C (p.Tyr410His) rs2151701605
NM_000293.3(PHKB):c.1256A>G (p.Tyr419Cys)
NM_000293.3(PHKB):c.1317A>C (p.Lys439Asn)
NM_000293.3(PHKB):c.1319T>C (p.Leu440Pro)
NM_000293.3(PHKB):c.1348A>T (p.Ile450Phe)
NM_000293.3(PHKB):c.1376T>C (p.Ile459Thr)
NM_000293.3(PHKB):c.1391T>C (p.Ile464Thr) rs1567326518
NM_000293.3(PHKB):c.1409A>G (p.Tyr470Cys)
NM_000293.3(PHKB):c.1429C>T (p.Arg477Cys)
NM_000293.3(PHKB):c.1458+3A>G
NM_000293.3(PHKB):c.1509C>G (p.Ser503Arg)
NM_000293.3(PHKB):c.1520A>G (p.Gln507Arg)
NM_000293.3(PHKB):c.1538A>G (p.Tyr513Cys)
NM_000293.3(PHKB):c.1548A>T (p.Gln516His)
NM_000293.3(PHKB):c.1584A>G (p.Ile528Met) rs1973024428
NM_000293.3(PHKB):c.1616T>C (p.Leu539Ser)
NM_000293.3(PHKB):c.1690A>G (p.Lys564Glu)
NM_000293.3(PHKB):c.16G>A (p.Gly6Arg)
NM_000293.3(PHKB):c.1726T>G (p.Tyr576Asp)
NM_000293.3(PHKB):c.1748G>A (p.Ser583Asn) rs1567341136
NM_000293.3(PHKB):c.1760T>C (p.Met587Thr) rs886052022
NM_000293.3(PHKB):c.1784T>C (p.Ile595Thr)
NM_000293.3(PHKB):c.178T>G (p.Leu60Val)
NM_000293.3(PHKB):c.1802C>T (p.Ala601Val) rs192099645
NM_000293.3(PHKB):c.1810T>G (p.Phe604Val)
NM_000293.3(PHKB):c.1841G>A (p.Arg614His)
NM_000293.3(PHKB):c.1861A>C (p.Ile621Leu)
NM_000293.3(PHKB):c.1864C>T (p.Arg622Trp)
NM_000293.3(PHKB):c.1876A>G (p.Ile626Val)
NM_000293.3(PHKB):c.1880+6T>C
NM_000293.3(PHKB):c.1888C>T (p.Arg630Trp)
NM_000293.3(PHKB):c.1900A>G (p.Ile634Val)
NM_000293.3(PHKB):c.1927A>G (p.Lys643Glu)
NM_000293.3(PHKB):c.1964G>A (p.Arg655His) rs756158798
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.1A>G (p.Met1Val)
NM_000293.3(PHKB):c.2033+5G>A
NM_000293.3(PHKB):c.205G>A (p.Gly69Ser)
NM_000293.3(PHKB):c.2060A>T (p.Glu687Val)
NM_000293.3(PHKB):c.2078A>G (p.His693Arg)
NM_000293.3(PHKB):c.2086G>A (p.Val696Ile)
NM_000293.3(PHKB):c.2105C>T (p.Thr702Ile)
NM_000293.3(PHKB):c.2107C>T (p.Pro703Ser)
NM_000293.3(PHKB):c.211T>G (p.Phe71Val)
NM_000293.3(PHKB):c.2126G>A (p.Gly709Glu)
NM_000293.3(PHKB):c.2176G>A (p.Glu726Lys)
NM_000293.3(PHKB):c.217A>G (p.Thr73Ala)
NM_000293.3(PHKB):c.2182C>T (p.Leu728Phe)
NM_000293.3(PHKB):c.2222C>A (p.Ala741Asp)
NM_000293.3(PHKB):c.2245A>G (p.Lys749Glu) rs1597159344
NM_000293.3(PHKB):c.2261A>C (p.Asn754Thr)
NM_000293.3(PHKB):c.2281A>G (p.Thr761Ala)
NM_000293.3(PHKB):c.2291A>G (p.Asp764Gly) rs1973484337
NM_000293.3(PHKB):c.2312G>A (p.Arg771Lys)
NM_000293.3(PHKB):c.2320G>C (p.Gly774Arg)
NM_000293.3(PHKB):c.2342C>T (p.Ala781Val)
NM_000293.3(PHKB):c.2344G>A (p.Val782Met)
NM_000293.3(PHKB):c.2398A>G (p.Ile800Val)
NM_000293.3(PHKB):c.239A>G (p.Gln80Arg) rs886052020
NM_000293.3(PHKB):c.2427+1001A>G
NM_000293.3(PHKB):c.2427+1014G>A rs2151739368
NM_000293.3(PHKB):c.2471A>T (p.Asn824Ile)
NM_000293.3(PHKB):c.2510A>G (p.Tyr837Cys)
NM_000293.3(PHKB):c.2534G>C (p.Arg845Thr)
NM_000293.3(PHKB):c.2555A>T (p.Glu852Val)
NM_000293.3(PHKB):c.2581A>G (p.Ile861Val)
NM_000293.3(PHKB):c.2588A>G (p.Asn863Ser)
NM_000293.3(PHKB):c.258C>G (p.Asp86Glu) rs147357783
NM_000293.3(PHKB):c.25G>A (p.Ala9Thr)
NM_000293.3(PHKB):c.2624G>A (p.Arg875Gln)
NM_000293.3(PHKB):c.2657A>C (p.Glu886Ala)
NM_000293.3(PHKB):c.2677G>C (p.Asp893His) rs2142102160
NM_000293.3(PHKB):c.2705T>G (p.Leu902Arg) rs2142102195
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg) rs886052023
NM_000293.3(PHKB):c.2755C>A (p.Gln919Lys)
NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys) rs766073838
NM_000293.3(PHKB):c.2783G>A (p.Arg928His) rs556303193
NM_000293.3(PHKB):c.2791G>A (p.Asp931Asn) rs373243537
NM_000293.3(PHKB):c.2813C>G (p.Pro938Arg) rs2142106902
NM_000293.3(PHKB):c.2825A>G (p.Tyr942Cys)
NM_000293.3(PHKB):c.2832A>G (p.Arg944=) rs1974096940
NM_000293.3(PHKB):c.2852G>T (p.Arg951Leu)
NM_000293.3(PHKB):c.2861A>G (p.Asn954Ser)
NM_000293.3(PHKB):c.2876C>T (p.Ala959Val)
NM_000293.3(PHKB):c.287C>G (p.Ala96Gly) rs776773729
NM_000293.3(PHKB):c.2882A>G (p.Lys961Arg)
NM_000293.3(PHKB):c.2898A>G (p.Gln966=)
NM_000293.3(PHKB):c.290T>C (p.Leu97Ser)
NM_000293.3(PHKB):c.2977C>A (p.Pro993Thr)
NM_000293.3(PHKB):c.3003+6T>C
NM_000293.3(PHKB):c.3003G>A (p.Glu1001=)
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile) rs1974189408
NM_000293.3(PHKB):c.3039C>A (p.Asn1013Lys) rs151222947
NM_000293.3(PHKB):c.3046C>G (p.Leu1016Val)
NM_000293.3(PHKB):c.305+11G>A rs368293023
NM_000293.3(PHKB):c.308G>A (p.Arg103Gln)
NM_000293.3(PHKB):c.308G>T (p.Arg103Leu)
NM_000293.3(PHKB):c.3098A>G (p.Asn1033Ser)
NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys) rs375008974
NM_000293.3(PHKB):c.3131A>G (p.Glu1044Gly)
NM_000293.3(PHKB):c.3134T>C (p.Ile1045Thr)
NM_000293.3(PHKB):c.3141_3144del (p.Gln1048fs) rs778012017
NM_000293.3(PHKB):c.3145-14_3145-7del rs759760999
NM_000293.3(PHKB):c.3164A>G (p.Tyr1055Cys)
NM_000293.3(PHKB):c.3171_3172delinsAA (p.Pro1058Thr)
NM_000293.3(PHKB):c.320A>G (p.Asp107Gly)
NM_000293.3(PHKB):c.3215C>T (p.Ala1072Val)
NM_000293.3(PHKB):c.3221T>A (p.Met1074Lys)
NM_000293.3(PHKB):c.3224A>G (p.Asn1075Ser) rs1405663204
NM_000293.3(PHKB):c.3242A>C (p.Glu1081Ala)
NM_000293.3(PHKB):c.3256A>G (p.Asn1086Asp)
NM_000293.3(PHKB):c.3257A>G (p.Asn1086Ser)
NM_000293.3(PHKB):c.3259G>A (p.Asp1087Asn) rs764639480
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg) rs763764574
NM_000293.3(PHKB):c.3271C>G (p.Leu1091Val)
NM_000293.3(PHKB):c.3280del (p.Ter1094SerextTer?)
NM_000293.3(PHKB):c.337G>A (p.Glu113Lys)
NM_000293.3(PHKB):c.379T>A (p.Tyr127Asn)
NM_000293.3(PHKB):c.386A>G (p.Tyr129Cys) rs774882825
NM_000293.3(PHKB):c.405+8_405+10del rs2151644461
NM_000293.3(PHKB):c.406G>A (p.Val136Ile)
NM_000293.3(PHKB):c.431G>A (p.Arg144His) rs768399607
NM_000293.3(PHKB):c.443G>A (p.Cys148Tyr)
NM_000293.3(PHKB):c.470C>T (p.Thr157Ile)
NM_000293.3(PHKB):c.505C>T (p.His169Tyr)
NM_000293.3(PHKB):c.530T>C (p.Leu177Pro) rs770841932
NM_000293.3(PHKB):c.542A>G (p.Tyr181Cys)
NM_000293.3(PHKB):c.545T>G (p.Leu182Arg) rs1970580865
NM_000293.3(PHKB):c.571C>G (p.Gln191Glu) rs2151651796
NM_000293.3(PHKB):c.589G>A (p.Asp197Asn)
NM_000293.3(PHKB):c.594+4T>G
NM_000293.3(PHKB):c.62G>C (p.Arg21Pro)
NM_000293.3(PHKB):c.632G>A (p.Arg211Lys) rs1971192807
NM_000293.3(PHKB):c.641G>A (p.Arg214His)
NM_000293.3(PHKB):c.646C>T (p.Pro216Ser)
NM_000293.3(PHKB):c.655G>C (p.Gly219Arg)
NM_000293.3(PHKB):c.661T>G (p.Trp221Gly)
NM_000293.3(PHKB):c.664G>C (p.Glu222Gln) rs866677615
NM_000293.3(PHKB):c.680A>G (p.Tyr227Cys)
NM_000293.3(PHKB):c.698A>C (p.Glu233Ala)
NM_000293.3(PHKB):c.703C>T (p.His235Tyr) rs886052021
NM_000293.3(PHKB):c.710+4A>G
NM_000293.3(PHKB):c.713C>T (p.Ser238Leu) rs748242735
NM_000293.3(PHKB):c.716T>C (p.Val239Ala) rs761032231
NM_000293.3(PHKB):c.731C>T (p.Ala244Val)
NM_000293.3(PHKB):c.733G>A (p.Ala245Thr)
NM_000293.3(PHKB):c.743C>G (p.Ala248Gly)
NM_000293.3(PHKB):c.76+4T>G
NM_000293.3(PHKB):c.80C>T (p.Ser27Leu)
NM_000293.3(PHKB):c.821G>A (p.Arg274His)
NM_000293.3(PHKB):c.842C>T (p.Ser281Leu)
NM_000293.3(PHKB):c.942C>A (p.Ser314Arg) rs775139159
NM_000293.3(PHKB):c.995G>A (p.Arg332His)
NM_000293.3(PHKB):c.995G>C (p.Arg332Pro)

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