ClinVar Miner

List of variants reported as pathogenic for PHGDH deficiency

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948 0.00002
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988 0.00001
NM_006623.4(PHGDH):c.1297C>T (p.Gln433Ter) rs1652276791 0.00001
NM_006623.4(PHGDH):c.1518G>A (p.Trp506Ter) rs779159301 0.00001
NM_006623.4(PHGDH):c.22A>T (p.Lys8Ter) rs1650717188 0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp) rs772067625 0.00001
NM_006623.4(PHGDH):c.68T>A (p.Leu23Ter) rs587615037 0.00001
NM_006623.4(PHGDH):c.70C>T (p.Gln24Ter) rs1418800829 0.00001
NM_006623.4(PHGDH):c.889G>T (p.Glu297Ter) rs1489498331 0.00001
NC_000001.10:g.(?_119466351)_(120286570_?)del
NC_000001.10:g.(?_120254636)_(120286673_?)del
NC_000001.10:g.(?_120254646)_(120254803_?)del
NC_000001.10:g.(?_120254646)_(120269745_?)del
NC_000001.10:g.(?_120254646)_(120283161_?)del
NC_000001.10:g.(?_120269454)_(120286663_?)del
NC_000001.10:g.(?_120277247)_(120277399_?)del
NC_000001.10:g.(?_120282989)_(120283161_?)del
NC_000001.10:g.(?_120286489)_(120286663_?)del
NM_006623.4(PHGDH):c.1063C>T (p.Gln355Ter) rs979237677
NM_006623.4(PHGDH):c.1075C>T (p.Gln359Ter) rs1652150288
NM_006623.4(PHGDH):c.1089del (p.Lys364fs) rs2464195486
NM_006623.4(PHGDH):c.1153C>T (p.Gln385Ter) rs2101221217
NM_006623.4(PHGDH):c.117_118delinsCT (p.Glu39_Glu40delinsAspTer) rs2101136632
NM_006623.4(PHGDH):c.1186del (p.Leu396fs) rs1652224758
NM_006623.4(PHGDH):c.118G>T (p.Glu40Ter) rs1650721954
NM_006623.4(PHGDH):c.1211T>A (p.Val404Asp) rs1282624852
NM_006623.4(PHGDH):c.1222dup (p.His408fs) rs2101224520
NM_006623.4(PHGDH):c.1228_1232dup (p.Ala412fs) rs1215699403
NM_006623.4(PHGDH):c.1258del (p.Glu420fs) rs2464203249
NM_006623.4(PHGDH):c.1282del (p.Ala428fs) rs2464203420
NM_006623.4(PHGDH):c.1286G>T (p.Gly429Val) rs1652276195
NM_006623.4(PHGDH):c.138+2dup rs1650723432
NM_006623.4(PHGDH):c.1394del (p.Leu465fs) rs2464204681
NM_006623.4(PHGDH):c.1429dup (p.Met477fs) rs2464205035
NM_006623.4(PHGDH):c.1485C>G (p.Tyr495Ter) rs2464209193
NM_006623.4(PHGDH):c.1499del (p.Val500fs) rs2464209283
NM_006623.4(PHGDH):c.171del (p.Lys58fs) rs750368565
NM_006623.4(PHGDH):c.1A>C (p.Met1Leu) rs1331155296
NM_006623.4(PHGDH):c.1A>G (p.Met1Val) rs1331155296
NM_006623.4(PHGDH):c.211C>T (p.Gln71Ter) rs2464080054
NM_006623.4(PHGDH):c.218_219insTT (p.Gly74fs) rs1433746199
NM_006623.4(PHGDH):c.271_274del (p.Lys91fs) rs2101155246
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr) rs951372478
NM_006623.4(PHGDH):c.304A>T (p.Asn102Tyr) rs2464092239
NM_006623.4(PHGDH):c.348C>A (p.Cys116Ter) rs2101160478
NM_006623.4(PHGDH):c.358C>T (p.Gln120Ter) rs2464111708
NM_006623.4(PHGDH):c.363del (p.Gln123fs) rs781273456
NM_006623.4(PHGDH):c.385A>T (p.Lys129Ter) rs2464112014
NM_006623.4(PHGDH):c.398G>A (p.Trp133Ter) rs2464112148
NM_006623.4(PHGDH):c.399G>A (p.Trp133Ter) rs1651447610
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.476_477del (p.Glu159fs) rs2464114425
NM_006623.4(PHGDH):c.483dup (p.Thr162fs) rs2464114660
NM_006623.4(PHGDH):c.509del (p.Lys170fs) rs2464115103
NM_006623.4(PHGDH):c.578del (p.Leu193fs) rs2464155152
NM_006623.4(PHGDH):c.600_601del (p.Cys200_Asp201delinsTer)
NM_006623.4(PHGDH):c.661_662del (p.Thr221fs) rs1651881638
NM_006623.4(PHGDH):c.665_666dup (p.Ala223fs) rs2464159619
NM_006623.4(PHGDH):c.670C>T (p.Gln224Ter) rs2101198087
NM_006623.4(PHGDH):c.709G>T (p.Gly237Ter) rs1341545186
NM_006623.4(PHGDH):c.714del (p.Ile239fs) rs730882181
NM_006623.4(PHGDH):c.775del (p.Leu259fs) rs2464161009
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006623.4(PHGDH):c.859del (p.Ser287fs) rs1557978852
NM_006623.4(PHGDH):c.874C>T (p.Gln292Ter) rs749134845
NM_006623.4(PHGDH):c.889del (p.Glu297fs) rs2464170715
NM_006623.4(PHGDH):c.901del (p.Val301fs) rs1571013274
NM_006623.4(PHGDH):c.919del (p.Met306_Val307insTer) rs2101205361
NM_006623.4(PHGDH):c.94_110del (p.Glu32fs) rs1650721119
NM_006623.4(PHGDH):c.958_968del (p.Ala320fs) rs1398758559
NM_006623.4(PHGDH):c.992del (p.Pro331fs) rs2464187735
NM_006623.4(PHGDH):c.996G>A (p.Trp332Ter) rs2101216259

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