ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease IXb by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 78
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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.2195A>G (p.Asn732Ser) rs201360702 0.00048
NM_000293.3(PHKB):c.305+11G>T rs368293023 0.00041
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.781T>G (p.Ser261Ala) rs137946010 0.00024
NM_000293.3(PHKB):c.8G>C (p.Gly3Ala) rs145047641 0.00024
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.*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.*741G>A rs1041235488 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.491A>G (p.Tyr164Cys) rs144211929 0.00009
NM_000293.3(PHKB):c.*1783A>G rs886052032 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.2136G>A (p.Pro712=) rs200274360 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.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.30A>C (p.Glu10Asp) rs760502380 0.00004
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953 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.1351G>A (p.Ala451Thr) rs745821795 0.00001
NM_000293.3(PHKB):c.1797+9G>A rs746001808 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.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.76+2T>C rs1303617854 0.00001
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser) rs143805637 0.00001
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.1117A>G (p.Met373Val) rs1972067736
NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln) rs1372877925
NM_000293.3(PHKB):c.1584A>G (p.Ile528Met) rs1973024428
NM_000293.3(PHKB):c.1760T>C (p.Met587Thr) rs886052022
NM_000293.3(PHKB):c.1802C>T (p.Ala601Val) rs192099645
NM_000293.3(PHKB):c.1964G>A (p.Arg655His) rs756158798
NM_000293.3(PHKB):c.2245A>G (p.Lys749Glu) rs1597159344
NM_000293.3(PHKB):c.239A>G (p.Gln80Arg) rs886052020
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg) rs886052023
NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys) rs766073838
NM_000293.3(PHKB):c.2832A>G (p.Arg944=) rs1974096940
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile) rs1974189408
NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys) rs375008974
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg) rs763764574
NM_000293.3(PHKB):c.703C>T (p.His235Tyr) rs886052021
NM_000293.3(PHKB):c.713C>T (p.Ser238Leu) rs748242735
NM_000293.3(PHKB):c.716T>C (p.Val239Ala) rs761032231

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