ClinVar Miner

List of variants in gene PHGDH reported as uncertain significance for PHGDH deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP gnomAD frequency
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu) rs151275800 0.00101
NM_006623.4(PHGDH):c.*140A>G rs587687027 0.00095
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_006623.4(PHGDH):c.*165_*166insGTAG rs140037378 0.00070
NM_006623.4(PHGDH):c.834C>A (p.Val278=) rs147866831 0.00051
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00030
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_006623.4(PHGDH):c.412-15C>T rs368681081 0.00021
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys) rs140979375 0.00019
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=) rs374303746 0.00016
NM_006623.4(PHGDH):c.-79T>C rs747803505 0.00013
NM_006623.4(PHGDH):c.572T>A (p.Leu191Gln) rs369944394 0.00013
NM_006623.4(PHGDH):c.390C>T (p.Asp130=) rs148078511 0.00012
NM_006623.4(PHGDH):c.644-12G>A rs370255821 0.00012
NM_006623.4(PHGDH):c.1346A>G (p.Asn449Ser) rs141662984 0.00011
NM_006623.4(PHGDH):c.689G>A (p.Arg230His) rs777155018 0.00011
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=) rs148721434 0.00010
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile) rs200037593 0.00009
NM_006623.3(PHGDH):c.-183G>A rs886045202 0.00008
NM_006623.4(PHGDH):c.181G>A (p.Ala61Thr) rs140185619 0.00008
NM_006623.4(PHGDH):c.910G>A (p.Val304Met) rs149175408 0.00007
NM_006623.3(PHGDH):c.-207G>A rs150128831 0.00006
NM_006623.4(PHGDH):c.*28G>A rs753765228 0.00006
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg) rs145344767 0.00006
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) rs147066269 0.00006
NM_006623.4(PHGDH):c.739C>T (p.Arg247Trp) rs768347730 0.00006
NM_006623.4(PHGDH):c.809G>A (p.Arg270Gln) rs375031910 0.00006
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr) rs142988234 0.00005
NM_006623.4(PHGDH):c.34A>G (p.Ser12Gly) rs764316050 0.00005
NM_006623.4(PHGDH):c.372G>A (p.Ala124=) rs146740411 0.00005
NM_006623.4(PHGDH):c.881G>A (p.Arg294His) rs147049991 0.00005
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058 0.00005
NM_006623.4(PHGDH):c.946G>A (p.Val316Met) rs146398308 0.00005
NM_006623.4(PHGDH):c.1078+3G>A rs755057495 0.00004
NM_006623.4(PHGDH):c.1209+3G>C rs771825779 0.00004
NM_006623.4(PHGDH):c.514A>G (p.Ile172Val) rs749677150 0.00004
NM_006623.4(PHGDH):c.139-17T>A rs191621265 0.00003
NM_006623.4(PHGDH):c.226G>T (p.Ala76Ser) rs200509653 0.00003
NM_006623.4(PHGDH):c.718G>A (p.Val240Met) rs765276824 0.00003
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp) rs142622658 0.00003
NM_006623.4(PHGDH):c.932C>T (p.Ser311Phe) rs143340742 0.00003
NM_006623.4(PHGDH):c.980C>T (p.Pro327Leu) rs778021683 0.00003
NM_006623.3(PHGDH):c.-222G>A rs60544490 0.00002
NM_006623.4(PHGDH):c.1096G>T (p.Ala366Ser) rs138515760 0.00002
NM_006623.4(PHGDH):c.1285G>C (p.Gly429Arg) rs145854744 0.00002
NM_006623.4(PHGDH):c.1362G>T (p.Arg454Ser) rs140457132 0.00002
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=) rs1264262485 0.00002
NM_006623.4(PHGDH):c.1406G>A (p.Arg469Gln) rs139764141 0.00002
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met) rs764618040 0.00002
NM_006623.4(PHGDH):c.400G>A (p.Glu134Lys) rs139129607 0.00002
NM_006623.4(PHGDH):c.404G>A (p.Arg135Gln) rs774423823 0.00002
NM_006623.4(PHGDH):c.772G>T (p.Ala258Ser) rs1375551954 0.00002
NM_006623.4(PHGDH):c.788C>T (p.Thr263Met) rs773221019 0.00002
NM_006623.4(PHGDH):c.804G>A (p.Arg268=) rs587719252 0.00002
NM_006623.4(PHGDH):c.1132C>T (p.Leu378Phe) rs1047310984 0.00001
NM_006623.4(PHGDH):c.1143G>C (p.Glu381Asp) rs774132406 0.00001
NM_006623.4(PHGDH):c.1151A>G (p.Lys384Arg) rs1299589464 0.00001
NM_006623.4(PHGDH):c.1193A>G (p.Lys398Arg) rs765542839 0.00001
NM_006623.4(PHGDH):c.119A>G (p.Glu40Gly) rs778630047 0.00001
NM_006623.4(PHGDH):c.1209+4C>T rs199611972 0.00001
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988 0.00001
NM_006623.4(PHGDH):c.129G>A (p.Ala43=) rs587623477 0.00001
NM_006623.4(PHGDH):c.1415C>T (p.Thr472Ile) rs966613179 0.00001
NM_006623.4(PHGDH):c.1429A>G (p.Met477Val) rs1249140637 0.00001
NM_006623.4(PHGDH):c.1450C>T (p.Leu484Phe) rs200693896 0.00001
NM_006623.4(PHGDH):c.1534T>G (p.Ser512Ala) rs375098288 0.00001
NM_006623.4(PHGDH):c.1595A>G (p.His532Arg) rs959684288 0.00001
NM_006623.4(PHGDH):c.160C>T (p.Arg54Cys) rs779687118 0.00001
NM_006623.4(PHGDH):c.202G>A (p.Glu68Lys) rs774538219 0.00001
NM_006623.4(PHGDH):c.25G>C (p.Val9Leu) rs199784256 0.00001
NM_006623.4(PHGDH):c.353C>T (p.Ala118Val) rs780272429 0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp) rs772067625 0.00001
NM_006623.4(PHGDH):c.496T>C (p.Ser166Pro) rs149631480 0.00001
NM_006623.4(PHGDH):c.526C>G (p.Pro176Ala) rs1031257536 0.00001
NM_006623.4(PHGDH):c.548C>T (p.Ser183Leu) rs376632509 0.00001
NM_006623.4(PHGDH):c.550G>A (p.Ala184Thr) rs956791237 0.00001
NM_006623.4(PHGDH):c.566A>C (p.Gln189Pro) rs750124525 0.00001
NM_006623.4(PHGDH):c.634T>G (p.Ser212Ala) rs374083753 0.00001
NM_006623.4(PHGDH):c.707G>A (p.Arg236His) rs776544484 0.00001
NM_006623.4(PHGDH):c.758A>G (p.Gln253Arg) rs1026407182 0.00001
NM_006623.4(PHGDH):c.787A>G (p.Thr263Ala) rs1651889178 0.00001
NM_006623.4(PHGDH):c.822C>A (p.Asp274Glu) rs370045696 0.00001
NM_006623.4(PHGDH):c.827A>C (p.Glu276Ala) rs1651975372 0.00001
NM_006623.4(PHGDH):c.880C>T (p.Arg294Cys) rs1390624793 0.00001
NM_006623.4(PHGDH):c.925G>A (p.Gly309Arg) rs1445772566 0.00001
NC_000001.10:g.(?_120277237)_(120278086_?)del
NM_006623.4(PHGDH):c.*58G>C rs1652337689
NM_006623.4(PHGDH):c.*8G>A rs1652335587
NM_006623.4(PHGDH):c.-11C>T rs886045203
NM_006623.4(PHGDH):c.1007C>T (p.Ala336Val) rs760161275
NM_006623.4(PHGDH):c.1031G>A (p.Arg344Gln)
NM_006623.4(PHGDH):c.1034C>T (p.Ala345Val)
NM_006623.4(PHGDH):c.1051A>G (p.Lys351Glu) rs1303930828
NM_006623.4(PHGDH):c.1069A>G (p.Ile357Val)
NM_006623.4(PHGDH):c.1078+10G>T rs374994783
NM_006623.4(PHGDH):c.107T>C (p.Leu36Pro) rs904243407
NM_006623.4(PHGDH):c.109A>G (p.Ser37Gly)
NM_006623.4(PHGDH):c.1100G>C (p.Gly367Ala) rs768838647
NM_006623.4(PHGDH):c.1112G>A (p.Ser371Asn)
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr) rs201553627
NM_006623.4(PHGDH):c.1117G>T (p.Ala373Ser)
NM_006623.4(PHGDH):c.1120G>C (p.Val374Leu)
NM_006623.4(PHGDH):c.1157C>T (p.Ala386Val)
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=) rs144484007
NM_006623.4(PHGDH):c.1177G>A (p.Ala393Thr)
NM_006623.4(PHGDH):c.118_119delinsTT (p.Glu40Leu) rs2101136638
NM_006623.4(PHGDH):c.1197_1198delinsTT (p.Glu399_Ala400delinsAspSer) rs2101221402
NM_006623.4(PHGDH):c.1209+5G>T
NM_006623.4(PHGDH):c.1209+6C>A rs774142037
NM_006623.4(PHGDH):c.120G>T (p.Glu40Asp) rs745693493
NM_006623.4(PHGDH):c.1210-2A>G rs2101224430
NM_006623.4(PHGDH):c.1213A>T (p.Thr405Ser)
NM_006623.4(PHGDH):c.1235C>T (p.Ala412Val)
NM_006623.4(PHGDH):c.1241G>A (p.Gly414Glu)
NM_006623.4(PHGDH):c.127G>C (p.Ala43Pro)
NM_006623.4(PHGDH):c.1287C>T (p.Gly429=)
NM_006623.4(PHGDH):c.1289C>A (p.Ala430Asp)
NM_006623.4(PHGDH):c.1307G>T (p.Gly436Val) rs1571020741
NM_006623.4(PHGDH):c.1313T>C (p.Val438Ala) rs1652277316
NM_006623.4(PHGDH):c.1327C>G (p.Pro443Ala) rs1052377436
NM_006623.4(PHGDH):c.1338G>C (p.Gln446His)
NM_006623.4(PHGDH):c.1345A>G (p.Asn449Asp) rs2101225206
NM_006623.4(PHGDH):c.1348G>A (p.Gly450Arg)
NM_006623.4(PHGDH):c.1351_1352insTGC (p.Ala451delinsValPro)
NM_006623.4(PHGDH):c.1352C>G (p.Ala451Gly)
NM_006623.4(PHGDH):c.1358T>G (p.Phe453Cys) rs2101225315
NM_006623.4(PHGDH):c.1361G>A (p.Arg454Lys) rs2101225331
NM_006623.4(PHGDH):c.1363C>T (p.Pro455Ser)
NM_006623.4(PHGDH):c.1378C>T (p.Arg460Cys) rs749406489
NM_006623.4(PHGDH):c.1379G>A (p.Arg460His) rs587696887
NM_006623.4(PHGDH):c.1379G>C (p.Arg460Pro) rs587696887
NM_006623.4(PHGDH):c.1379G>T (p.Arg460Leu) rs587696887
NM_006623.4(PHGDH):c.138+6G>T
NM_006623.4(PHGDH):c.138G>A (p.Gln46=) rs143217390
NM_006623.4(PHGDH):c.138G>C (p.Gln46His) rs143217390
NM_006623.4(PHGDH):c.139-3C>T rs750037132
NM_006623.4(PHGDH):c.13A>G (p.Asn5Asp) rs745781701
NM_006623.4(PHGDH):c.1405C>T (p.Arg469Trp)
NM_006623.4(PHGDH):c.1413G>T (p.Gln471His)
NM_006623.4(PHGDH):c.1423C>T (p.Pro475Ser) rs757928289
NM_006623.4(PHGDH):c.1426G>A (p.Ala476Thr)
NM_006623.4(PHGDH):c.142T>C (p.Cys48Arg) rs1296126379
NM_006623.4(PHGDH):c.1430T>C (p.Met477Thr)
NM_006623.4(PHGDH):c.1438A>G (p.Thr480Ala)
NM_006623.4(PHGDH):c.143G>A (p.Cys48Tyr)
NM_006623.4(PHGDH):c.1441A>G (p.Met481Val)
NM_006623.4(PHGDH):c.1442T>C (p.Met481Thr)
NM_006623.4(PHGDH):c.1457C>A (p.Ala486Glu)
NM_006623.4(PHGDH):c.1472G>A (p.Arg491Gln) rs1452461315
NM_006623.4(PHGDH):c.1514C>T (p.Thr505Ile)
NM_006623.4(PHGDH):c.1522G>A (p.Val508Ile)
NM_006623.4(PHGDH):c.1526T>C (p.Met509Thr)
NM_006623.4(PHGDH):c.1558G>A (p.Ala520Thr)
NM_006623.4(PHGDH):c.1559C>T (p.Ala520Val)
NM_006623.4(PHGDH):c.1565_1566del (p.Lys522fs)
NM_006623.4(PHGDH):c.1571A>G (p.His524Arg) rs2101229584
NM_006623.4(PHGDH):c.1572_1575dup (p.Thr526fs)
NM_006623.4(PHGDH):c.1583C>A (p.Ala528Asp)
NM_006623.4(PHGDH):c.1583C>G (p.Ala528Gly)
NM_006623.4(PHGDH):c.175G>T (p.Val59Leu) rs2101154786
NM_006623.4(PHGDH):c.176T>G (p.Val59Gly) rs1340275757
NM_006623.4(PHGDH):c.187G>A (p.Val63Ile) rs2101154843
NM_006623.4(PHGDH):c.196G>A (p.Ala66Thr)
NM_006623.4(PHGDH):c.20G>C (p.Arg7Pro) rs1650717022
NM_006623.4(PHGDH):c.214G>A (p.Val72Met) rs958052810
NM_006623.4(PHGDH):c.242A>T (p.Asp81Val)
NM_006623.4(PHGDH):c.245A>G (p.Asn82Ser) rs587625944
NM_006623.4(PHGDH):c.24A>T (p.Lys8Asn) rs2101136375
NM_006623.4(PHGDH):c.250G>T (p.Asp84Tyr)
NM_006623.4(PHGDH):c.266C>A (p.Thr89Lys) rs1651150753
NM_006623.4(PHGDH):c.275G>A (p.Gly92Asp)
NM_006623.4(PHGDH):c.281T>G (p.Leu94Trp) rs1651151523
NM_006623.4(PHGDH):c.290+3A>C rs2101155326
NM_006623.4(PHGDH):c.290+6T>C
NM_006623.4(PHGDH):c.299A>G (p.Asn100Ser)
NM_006623.4(PHGDH):c.310C>T (p.Leu104Phe)
NM_006623.4(PHGDH):c.319G>A (p.Ala107Thr)
NM_006623.4(PHGDH):c.322G>C (p.Glu108Gln)
NM_006623.4(PHGDH):c.356+3A>G
NM_006623.4(PHGDH):c.357-15T>C
NM_006623.4(PHGDH):c.357-3C>A
NM_006623.4(PHGDH):c.357G>T (p.Arg119Ser)
NM_006623.4(PHGDH):c.35G>T (p.Ser12Ile)
NM_006623.4(PHGDH):c.364_365delinsTT (p.Pro122Phe) rs2101171167
NM_006623.4(PHGDH):c.371C>T (p.Ala124Val)
NM_006623.4(PHGDH):c.377C>G (p.Ala126Gly)
NM_006623.4(PHGDH):c.380C>T (p.Ser127Leu)
NM_006623.4(PHGDH):c.381G>A (p.Ser127=) rs886045205
NM_006623.4(PHGDH):c.391G>A (p.Gly131Ser)
NM_006623.4(PHGDH):c.395A>G (p.Lys132Arg)
NM_006623.4(PHGDH):c.399G>C (p.Trp133Cys) rs1651447610
NM_006623.4(PHGDH):c.403C>G (p.Arg135Gly)
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly) rs1448633854
NM_006623.4(PHGDH):c.411+3G>A
NM_006623.4(PHGDH):c.411+5G>T rs775568707
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.427C>A (p.Leu143Met) rs143155925
NM_006623.4(PHGDH):c.458T>C (p.Leu153Pro) rs1311224546
NM_006623.4(PHGDH):c.460G>A (p.Gly154Ser) rs1056647813
NM_006623.4(PHGDH):c.472A>G (p.Arg158Gly)
NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly) rs756996899
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006623.4(PHGDH):c.500T>C (p.Phe167Ser)
NM_006623.4(PHGDH):c.505A>T (p.Met169Leu) rs776977023
NM_006623.4(PHGDH):c.507G>A (p.Met169Ile) rs1651465371
NM_006623.4(PHGDH):c.511-13T>G rs1571009081
NM_006623.4(PHGDH):c.511-5A>G
NM_006623.4(PHGDH):c.518G>A (p.Gly173Glu) rs2101195384
NM_006623.4(PHGDH):c.519G>A (p.Gly173=) rs754326499
NM_006623.4(PHGDH):c.543G>A (p.Glu181=) rs886045206
NM_006623.4(PHGDH):c.574C>T (p.Pro192Ser)
NM_006623.4(PHGDH):c.619A>T (p.Thr207Ser)
NM_006623.4(PHGDH):c.62A>C (p.Lys21Thr) rs891735095
NM_006623.4(PHGDH):c.638C>T (p.Thr213Met)
NM_006623.4(PHGDH):c.658A>C (p.Asn220His) rs2101198018
NM_006623.4(PHGDH):c.659A>T (p.Asn220Ile)
NM_006623.4(PHGDH):c.674G>A (p.Cys225Tyr) rs2101198107
NM_006623.4(PHGDH):c.682G>C (p.Gly228Arg) rs139063843
NM_006623.4(PHGDH):c.683G>A (p.Gly228Glu)
NM_006623.4(PHGDH):c.688C>A (p.Arg230Ser) rs1366611140
NM_006623.4(PHGDH):c.68T>G (p.Leu23Trp) rs587615037
NM_006623.4(PHGDH):c.694G>A (p.Val232Met) rs1359915168
NM_006623.4(PHGDH):c.695T>A (p.Val232Glu)
NM_006623.4(PHGDH):c.69G>C (p.Leu23Phe) rs2101136517
NM_006623.4(PHGDH):c.713G>T (p.Gly238Val) rs2101198427
NM_006623.4(PHGDH):c.721G>A (p.Asp241Asn)
NM_006623.4(PHGDH):c.730G>A (p.Ala244Thr)
NM_006623.4(PHGDH):c.740G>A (p.Arg247Gln)
NM_006623.4(PHGDH):c.742G>A (p.Ala248Thr)
NM_006623.4(PHGDH):c.743C>A (p.Ala248Asp) rs201782441
NM_006623.4(PHGDH):c.764C>T (p.Ala255Val) rs1571010631
NM_006623.4(PHGDH):c.766G>A (p.Gly256Arg)
NM_006623.4(PHGDH):c.77G>A (p.Gly26Glu) rs1650720374
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006623.4(PHGDH):c.792+6T>C rs146953046
NM_006623.4(PHGDH):c.79G>C (p.Gly27Arg) rs755568069
NM_006623.4(PHGDH):c.803G>A (p.Arg268Gln)
NM_006623.4(PHGDH):c.808C>T (p.Arg270Trp) rs765756881
NM_006623.4(PHGDH):c.824A>G (p.His275Arg)
NM_006623.4(PHGDH):c.851T>C (p.Leu284Pro)
NM_006623.4(PHGDH):c.854G>A (p.Gly285Asp)
NM_006623.4(PHGDH):c.868G>A (p.Glu290Lys) rs2101204959
NM_006623.4(PHGDH):c.86A>G (p.Gln29Arg) rs1650720815
NM_006623.4(PHGDH):c.87G>T (p.Gln29His)
NM_006623.4(PHGDH):c.881G>T (p.Arg294Leu)
NM_006623.4(PHGDH):c.894A>C (p.Glu298Asp)
NM_006623.4(PHGDH):c.907T>C (p.Phe303Leu)
NM_006623.4(PHGDH):c.938C>T (p.Thr313Met)
NM_006623.4(PHGDH):c.940G>A (p.Gly314Arg)
NM_006623.4(PHGDH):c.946G>C (p.Val316Leu) rs146398308
NM_006623.4(PHGDH):c.953C>T (p.Ala318Val) rs1030988421
NM_006623.4(PHGDH):c.971C>T (p.Ala324Val)
NM_006623.4(PHGDH):c.991C>A (p.Pro331Thr)
NM_006623.4(PHGDH):c.991C>T (p.Pro331Ser) rs370562656

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