ClinVar Miner

List of variants in gene PHGDH studied for inborn disorder of serine family metabolism

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 800
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HGVS dbSNP gnomAD frequency
NM_006623.4(PHGDH):c.1209+149A>T rs627070 0.70206
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_006623.3(PHGDH):c.-140A>G rs561931 0.61476
NM_006623.4(PHGDH):c.138+2327T>C rs637868 0.55284
NM_006623.4(PHGDH):c.139-13T>C rs894078 0.01680
NM_006623.4(PHGDH):c.318C>T (p.Ala106=) rs115747918 0.01251
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_006623.4(PHGDH):c.357-17T>C rs76447100 0.00863
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) rs77632964 0.00622
NM_006623.4(PHGDH):c.*151C>G rs112584109 0.00373
NM_006623.4(PHGDH):c.1158G>T (p.Ala386=) rs144484007 0.00191
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00154
NM_006623.4(PHGDH):c.510+6A>G rs371736796 0.00133
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.1208A>G (p.Asn403Ser) rs139827025 0.00091
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_006623.4(PHGDH):c.291-18C>A rs199604131 0.00078
NM_006623.4(PHGDH):c.*165_*166insGTAG rs140037378 0.00070
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser) rs201298102 0.00064
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.1209+19C>T rs367917607 0.00026
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_006623.4(PHGDH):c.356+13C>G rs184901459 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.411+9C>T rs187075075 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.743C>T (p.Ala248Val) rs201782441 0.00013
NM_006623.4(PHGDH):c.390C>T (p.Asp130=) rs148078511 0.00012
NM_006623.4(PHGDH):c.643+17A>C rs772910115 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.139-19A>G rs773408065 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.643+9G>A rs377674470 0.00010
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile) rs200037593 0.00009
NM_006623.4(PHGDH):c.723C>T (p.Asp241=) rs150682021 0.00009
NM_006623.3(PHGDH):c.-183G>A rs886045202 0.00008
NM_006623.4(PHGDH):c.1560G>A (p.Ala520=) rs145788723 0.00008
NM_006623.4(PHGDH):c.181G>A (p.Ala61Thr) rs140185619 0.00008
NM_006623.4(PHGDH):c.780C>T (p.Asp260=) rs146220907 0.00008
NM_006623.4(PHGDH):c.261C>T (p.Ala87=) rs761309245 0.00007
NM_006623.4(PHGDH):c.511-7C>T rs748335207 0.00007
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.1467C>T (p.Gly489=) rs754658401 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_006623.4(PHGDH):c.1515C>G (p.Thr505=) rs201529203 0.00006
NM_006623.4(PHGDH):c.375G>A (p.Thr125=) rs754365384 0.00006
NM_006623.4(PHGDH):c.510+14G>A rs763333293 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.549G>A (p.Ser183=) rs776140200 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.1116C>T (p.Pro372=) rs587662790 0.00004
NM_006623.4(PHGDH):c.1128C>T (p.Val376=) rs199677303 0.00004
NM_006623.4(PHGDH):c.1176C>T (p.Asn392=) rs764196357 0.00004
NM_006623.4(PHGDH):c.1209+3G>C rs771825779 0.00004
NM_006623.4(PHGDH):c.1254C>T (p.Phe418=) rs763258512 0.00004
NM_006623.4(PHGDH):c.1575G>T (p.Val525=) rs587681898 0.00004
NM_006623.4(PHGDH):c.412-6T>C rs762278325 0.00004
NM_006623.4(PHGDH):c.514A>G (p.Ile172Val) rs749677150 0.00004
NM_006623.4(PHGDH):c.1044G>T (p.Gly348=) rs761417256 0.00003
NM_006623.4(PHGDH):c.1224C>T (p.His408=) rs746907048 0.00003
NM_006623.4(PHGDH):c.139-17T>A rs191621265 0.00003
NM_006623.4(PHGDH):c.1401A>G (p.Leu467=) rs768039058 0.00003
NM_006623.4(PHGDH):c.226G>T (p.Ala76Ser) rs200509653 0.00003
NM_006623.4(PHGDH):c.486C>A (p.Thr162=) rs1054405028 0.00003
NM_006623.4(PHGDH):c.644-13C>T rs761863796 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.903T>G (p.Val301=) rs777075726 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.1129G>A (p.Gly377Ser) rs267606948 0.00002
NM_006623.4(PHGDH):c.1149C>T (p.Ser383=) rs145449458 0.00002
NM_006623.4(PHGDH):c.1272C>T (p.Ala424=) rs61743646 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.1447+9G>A rs200578872 0.00002
NM_006623.4(PHGDH):c.1521C>T (p.His507=) rs145182036 0.00002
NM_006623.4(PHGDH):c.222C>A (p.Gly74=) rs746248451 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.411+10G>A rs754273367 0.00002
NM_006623.4(PHGDH):c.429G>A (p.Leu143=) rs1417980204 0.00002
NM_006623.4(PHGDH):c.511-4C>A rs1294928573 0.00002
NM_006623.4(PHGDH):c.644-4C>T rs750611174 0.00002
NM_006623.4(PHGDH):c.745C>T (p.Leu249=) rs779555619 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.793-16A>G rs182868038 0.00002
NM_006623.4(PHGDH):c.793-17T>C rs777684647 0.00002
NM_006623.4(PHGDH):c.793-6G>T rs759639493 0.00002
NM_006623.4(PHGDH):c.804G>A (p.Arg268=) rs587719252 0.00002
NM_006623.4(PHGDH):c.909C>T (p.Phe303=) rs762185673 0.00002
NM_006623.4(PHGDH):c.1017G>A (p.Leu339=) rs768115742 0.00001
NM_006623.4(PHGDH):c.1024C>T (p.Leu342=) rs1416033860 0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_006623.4(PHGDH):c.1041T>G (p.Ala347=) rs1374696914 0.00001
NM_006623.4(PHGDH):c.1078+20G>T rs988452433 0.00001
NM_006623.4(PHGDH):c.1079-7T>C rs766319430 0.00001
NM_006623.4(PHGDH):c.1079-8G>A rs1180990036 0.00001
NM_006623.4(PHGDH):c.111C>T (p.Ser37=) rs1270606502 0.00001
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.1179T>C (p.Ala393=) rs754034829 0.00001
NM_006623.4(PHGDH):c.1193A>G (p.Lys398Arg) rs765542839 0.00001
NM_006623.4(PHGDH):c.1194A>G (p.Lys398=) rs747965439 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.1218C>T (p.Thr406=) rs771737948 0.00001
NM_006623.4(PHGDH):c.1227C>T (p.Ser409=) rs768582720 0.00001
NM_006623.4(PHGDH):c.1245G>A (p.Glu415=) rs769982653 0.00001
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988 0.00001
NM_006623.4(PHGDH):c.1290C>T (p.Ala430=) rs1393433949 0.00001
NM_006623.4(PHGDH):c.129G>A (p.Ala43=) rs587623477 0.00001
NM_006623.4(PHGDH):c.1335G>T (p.Leu445=) rs768496348 0.00001
NM_006623.4(PHGDH):c.135G>T (p.Leu45=) rs1352826557 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.1434G>A (p.Leu478=) rs1420781632 0.00001
NM_006623.4(PHGDH):c.1447+13C>T rs143612626 0.00001
NM_006623.4(PHGDH):c.1450C>T (p.Leu484Phe) rs200693896 0.00001
NM_006623.4(PHGDH):c.1461G>A (p.Glu487=) rs1005068896 0.00001
NM_006623.4(PHGDH):c.1500G>C (p.Val500=) rs755921813 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.162C>T (p.Arg54=) rs754900737 0.00001
NM_006623.4(PHGDH):c.180C>T (p.Thr60=) rs769991971 0.00001
NM_006623.4(PHGDH):c.195C>T (p.Asn65=) rs771208719 0.00001
NM_006623.4(PHGDH):c.202G>A (p.Glu68Lys) rs774538219 0.00001
NM_006623.4(PHGDH):c.21G>C (p.Arg7=) rs1650717107 0.00001
NM_006623.4(PHGDH):c.225G>A (p.Arg75=) rs1441422663 0.00001
NM_006623.4(PHGDH):c.22A>T (p.Lys8Ter) rs1650717188 0.00001
NM_006623.4(PHGDH):c.25G>C (p.Val9Leu) rs199784256 0.00001
NM_006623.4(PHGDH):c.290+17G>A rs375876858 0.00001
NM_006623.4(PHGDH):c.290+18C>T rs779206688 0.00001
NM_006623.4(PHGDH):c.291-8A>G rs775356901 0.00001
NM_006623.4(PHGDH):c.306C>T (p.Asn102=) rs761693145 0.00001
NM_006623.4(PHGDH):c.353C>T (p.Ala118Val) rs780272429 0.00001
NM_006623.4(PHGDH):c.357-10A>G rs773131387 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_006623.4(PHGDH):c.357-8C>T rs762922421 0.00001
NM_006623.4(PHGDH):c.366C>G (p.Pro122=) rs1210498938 0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp) rs772067625 0.00001
NM_006623.4(PHGDH):c.48C>T (p.Asp16=) rs765678440 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.534T>C (p.Ile178=) rs1467975689 0.00001
NM_006623.4(PHGDH):c.548C>T (p.Ser183Leu) rs376632509 0.00001
NM_006623.4(PHGDH):c.54C>T (p.Cys18=) rs1236966373 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.571C>T (p.Leu191=) rs988162080 0.00001
NM_006623.4(PHGDH):c.582G>A (p.Glu194=) rs751522281 0.00001
NM_006623.4(PHGDH):c.597C>T (p.Leu199=) rs1337925565 0.00001
NM_006623.4(PHGDH):c.634T>G (p.Ser212Ala) rs374083753 0.00001
NM_006623.4(PHGDH):c.639G>A (p.Thr213=) rs1489385483 0.00001
NM_006623.4(PHGDH):c.643+7G>A rs943894952 0.00001
NM_006623.4(PHGDH):c.67T>C (p.Leu23=) rs1650719894 0.00001
NM_006623.4(PHGDH):c.684G>A (p.Gly228=) rs745471026 0.00001
NM_006623.4(PHGDH):c.707G>A (p.Arg236His) rs776544484 0.00001
NM_006623.4(PHGDH):c.70C>T (p.Gln24Ter) rs1418800829 0.00001
NM_006623.4(PHGDH):c.732C>T (p.Ala244=) rs767968310 0.00001
NM_006623.4(PHGDH):c.758A>G (p.Gln253Arg) rs1026407182 0.00001
NM_006623.4(PHGDH):c.75T>C (p.Asp25=) rs752195785 0.00001
NM_006623.4(PHGDH):c.765C>T (p.Ala255=) rs138939987 0.00001
NM_006623.4(PHGDH):c.774A>G (p.Ala258=) rs587668968 0.00001
NM_006623.4(PHGDH):c.786T>C (p.Phe262=) rs1221851702 0.00001
NM_006623.4(PHGDH):c.787A>G (p.Thr263Ala) rs1651889178 0.00001
NM_006623.4(PHGDH):c.797C>T (p.Pro266Leu) rs775936961 0.00001
NM_006623.4(PHGDH):c.798G>A (p.Pro266=) rs761104723 0.00001
NM_006623.4(PHGDH):c.81G>C (p.Gly27=) rs1157171557 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.849C>T (p.His283=) rs1651976766 0.00001
NM_006623.4(PHGDH):c.880C>T (p.Arg294Cys) rs1390624793 0.00001
NM_006623.4(PHGDH):c.882C>T (p.Arg294=) rs778794269 0.00001
NM_006623.4(PHGDH):c.90G>C (p.Val30=) rs376722247 0.00001
NM_006623.4(PHGDH):c.925G>A (p.Gly309Arg) rs1445772566 0.00001
NM_006623.4(PHGDH):c.927G>A (p.Gly309=) rs1232037305 0.00001
NM_006623.4(PHGDH):c.945+15C>T rs1244270161 0.00001
NM_006623.4(PHGDH):c.946-11A>G rs1003480319 0.00001
NM_006623.4(PHGDH):c.946-20C>T rs202074277 0.00001
NM_006623.4(PHGDH):c.946-6C>T rs199629505 0.00001
NC_000001.10:g.(?_120254418)_(120254784_120263792)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.(?_120277237)_(120278086_?)del
NC_000001.10:g.(?_120277247)_(120277399_?)del
NC_000001.10:g.(?_120282989)_(120283161_?)del
NC_000001.10:g.(?_120286489)_(120286663_?)del
NM_006623.3(PHGDH):c.-101G>C rs562038
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.1003C>T (p.Leu335=) rs2101216283
NM_006623.4(PHGDH):c.1007C>T (p.Ala336Val) rs760161275
NM_006623.4(PHGDH):c.1008A>C (p.Ala336=)
NM_006623.4(PHGDH):c.102G>A (p.Gln34=)
NM_006623.4(PHGDH):c.1031G>A (p.Arg344Gln)
NM_006623.4(PHGDH):c.1034C>T (p.Ala345Val)
NM_006623.4(PHGDH):c.1035C>A (p.Ala345=) rs1477345994
NM_006623.4(PHGDH):c.1035C>T (p.Ala345=) rs1477345994
NM_006623.4(PHGDH):c.1047C>G (p.Ser349=)
NM_006623.4(PHGDH):c.1047C>T (p.Ser349=)
NM_006623.4(PHGDH):c.1051A>G (p.Lys351Glu) rs1303930828
NM_006623.4(PHGDH):c.105C>T (p.Asn35=)
NM_006623.4(PHGDH):c.1063C>T (p.Gln355Ter) rs979237677
NM_006623.4(PHGDH):c.1069A>G (p.Ile357Val)
NM_006623.4(PHGDH):c.1075C>T (p.Gln359Ter) rs1652150288
NM_006623.4(PHGDH):c.1078+10G>A
NM_006623.4(PHGDH):c.1078+10G>T rs374994783
NM_006623.4(PHGDH):c.1078+11G>T
NM_006623.4(PHGDH):c.1078+18C>T
NM_006623.4(PHGDH):c.1078+1G>A rs1224279673
NM_006623.4(PHGDH):c.1078+7T>C rs2101216709
NM_006623.4(PHGDH):c.1078+8G>A
NM_006623.4(PHGDH):c.1078G>T (p.Gly360Ter)
NM_006623.4(PHGDH):c.1079-14C>T rs755593718
NM_006623.4(PHGDH):c.1079-17C>G
NM_006623.4(PHGDH):c.1079-2A>G rs2101220673
NM_006623.4(PHGDH):c.1079-51_1079-19del rs1652215363
NM_006623.4(PHGDH):c.1079-6C>T
NM_006623.4(PHGDH):c.1079-9T>C rs2101220637
NM_006623.4(PHGDH):c.107T>C (p.Leu36Pro) rs904243407
NM_006623.4(PHGDH):c.1086C>T (p.Ser362=)
NM_006623.4(PHGDH):c.1089G>C (p.Leu363=)
NM_006623.4(PHGDH):c.1089del (p.Lys364fs)
NM_006623.4(PHGDH):c.108dup (p.Ser37Ter)
NM_006623.4(PHGDH):c.109A>G (p.Ser37Gly)
NM_006623.4(PHGDH):c.1100G>C (p.Gly367Ala) rs768838647
NM_006623.4(PHGDH):c.1101G>A (p.Gly367=)
NM_006623.4(PHGDH):c.1108C>T (p.Leu370=)
NM_006623.4(PHGDH):c.1110A>G (p.Leu370=)
NM_006623.4(PHGDH):c.1112G>A (p.Ser371Asn)
NM_006623.4(PHGDH):c.1113C>T (p.Ser371=)
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.1122C>A (p.Val374=) rs2101220979
NM_006623.4(PHGDH):c.1128C>G (p.Val376=)
NM_006623.4(PHGDH):c.1131C>G (p.Gly377=)
NM_006623.4(PHGDH):c.1137G>C (p.Leu379=) rs144019971
NM_006623.4(PHGDH):c.1140A>G (p.Lys380=)
NM_006623.4(PHGDH):c.1146T>C (p.Ala382=) rs2101221161
NM_006623.4(PHGDH):c.1153C>T (p.Gln385Ter) rs2101221217
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.117G>A (p.Glu39=)
NM_006623.4(PHGDH):c.117_118delinsCT (p.Glu39_Glu40delinsAspTer) rs2101136632
NM_006623.4(PHGDH):c.1185G>C (p.Leu395=) rs1652224641
NM_006623.4(PHGDH):c.1185G>T (p.Leu395=)
NM_006623.4(PHGDH):c.1186del (p.Leu396fs) rs1652224758
NM_006623.4(PHGDH):c.118G>T (p.Glu40Ter) rs1650721954
NM_006623.4(PHGDH):c.118_119delinsTT (p.Glu40Leu) rs2101136638
NM_006623.4(PHGDH):c.1197G>A (p.Glu399=) rs758882501
NM_006623.4(PHGDH):c.1197_1198delinsTT (p.Glu399_Ala400delinsAspSer) rs2101221402
NM_006623.4(PHGDH):c.1206C>T (p.Leu402=)
NM_006623.4(PHGDH):c.1209+14C>T
NM_006623.4(PHGDH):c.1209+16C>G
NM_006623.4(PHGDH):c.1209+16C>T
NM_006623.4(PHGDH):c.1209+17C>A rs587674701
NM_006623.4(PHGDH):c.1209+17C>G rs587674701
NM_006623.4(PHGDH):c.1209+17C>T rs587674701
NM_006623.4(PHGDH):c.1209+19C>G
NM_006623.4(PHGDH):c.1209+20G>A
NM_006623.4(PHGDH):c.1209+5G>T
NM_006623.4(PHGDH):c.1209+6C>A rs774142037
NM_006623.4(PHGDH):c.1209+7C>T
NM_006623.4(PHGDH):c.1209+9C>A
NM_006623.4(PHGDH):c.1209+9C>T rs745641174
NM_006623.4(PHGDH):c.1209+9del rs776173839
NM_006623.4(PHGDH):c.120G>T (p.Glu40Asp) rs745693493
NM_006623.4(PHGDH):c.1210-13C>T
NM_006623.4(PHGDH):c.1210-14C>A
NM_006623.4(PHGDH):c.1210-18C>T
NM_006623.4(PHGDH):c.1210-19C>T
NM_006623.4(PHGDH):c.1210-20A>G
NM_006623.4(PHGDH):c.1210-20A>T
NM_006623.4(PHGDH):c.1210-2A>G rs2101224430
NM_006623.4(PHGDH):c.1210-4A>G rs2101224413
NM_006623.4(PHGDH):c.1210-5C>T
NM_006623.4(PHGDH):c.1210-8C>A
NM_006623.4(PHGDH):c.1210-8C>T rs2101224399
NM_006623.4(PHGDH):c.1210-9T>A
NM_006623.4(PHGDH):c.1210G>A (p.Val404Ile)
NM_006623.4(PHGDH):c.1211T>A (p.Val404Asp)
NM_006623.4(PHGDH):c.1213A>T (p.Thr405Ser)
NM_006623.4(PHGDH):c.1222dup (p.His408fs) rs2101224520
NM_006623.4(PHGDH):c.1228_1232dup (p.Ala412fs) rs1215699403
NM_006623.4(PHGDH):c.1233T>C (p.Ala411=) rs2101224620
NM_006623.4(PHGDH):c.1235C>T (p.Ala412Val)
NM_006623.4(PHGDH):c.1236A>C (p.Ala412=) rs2101224630
NM_006623.4(PHGDH):c.1241G>A (p.Gly414Glu)
NM_006623.4(PHGDH):c.1242G>A (p.Gly414=) rs2101224665
NM_006623.4(PHGDH):c.1258del (p.Glu420fs)
NM_006623.4(PHGDH):c.1266C>T (p.Leu422=)
NM_006623.4(PHGDH):c.1278C>T (p.Ala426=) rs2101224812
NM_006623.4(PHGDH):c.127G>C (p.Ala43Pro)
NM_006623.4(PHGDH):c.1281G>A (p.Leu427=)
NM_006623.4(PHGDH):c.1282del (p.Ala428fs)
NM_006623.4(PHGDH):c.1284A>G (p.Ala428=) rs1244466093
NM_006623.4(PHGDH):c.1286G>T (p.Gly429Val) rs1652276195
NM_006623.4(PHGDH):c.1287C>T (p.Gly429=)
NM_006623.4(PHGDH):c.1289C>A (p.Ala430Asp)
NM_006623.4(PHGDH):c.1297C>T (p.Gln433Ter)
NM_006623.4(PHGDH):c.1299G>A (p.Gln433=) rs900277109
NM_006623.4(PHGDH):c.12A>T (p.Ala4=)
NM_006623.4(PHGDH):c.1307G>T (p.Gly436Val) rs1571020741
NM_006623.4(PHGDH):c.1308C>T (p.Gly436=) rs2101224967
NM_006623.4(PHGDH):c.1313T>C (p.Val438Ala) rs1652277316
NM_006623.4(PHGDH):c.1314C>T (p.Val438=)
NM_006623.4(PHGDH):c.1323T>C (p.Thr441=)
NM_006623.4(PHGDH):c.1326G>T (p.Thr442=) rs543703
NM_006623.4(PHGDH):c.1327C>G (p.Pro443Ala) rs1052377436
NM_006623.4(PHGDH):c.1329T>G (p.Pro443=)
NM_006623.4(PHGDH):c.1332A>C (p.Val444=)
NM_006623.4(PHGDH):c.1333C>T (p.Leu445=) rs2101225117
NM_006623.4(PHGDH):c.1338G>C (p.Gln446His)
NM_006623.4(PHGDH):c.1341G>T (p.Gly447=)
NM_006623.4(PHGDH):c.1344C>A (p.Leu448=) rs1390869782
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.1362G>A (p.Arg454=)
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+12G>A
NM_006623.4(PHGDH):c.138+19A>T
NM_006623.4(PHGDH):c.138+1G>T
NM_006623.4(PHGDH):c.138+2dup rs1650723432
NM_006623.4(PHGDH):c.138+6G>T
NM_006623.4(PHGDH):c.138+9A>C
NM_006623.4(PHGDH):c.1381A>C (p.Arg461=)
NM_006623.4(PHGDH):c.1383G>A (p.Arg461=) rs2101225455
NM_006623.4(PHGDH):c.1389G>A (p.Leu463=)
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.139-10del
NM_006623.4(PHGDH):c.139-10dup
NM_006623.4(PHGDH):c.139-11T>C
NM_006623.4(PHGDH):c.139-15T>C
NM_006623.4(PHGDH):c.139-16G>T
NM_006623.4(PHGDH):c.139-18A>T
NM_006623.4(PHGDH):c.139-2A>G
NM_006623.4(PHGDH):c.139-3C>T rs750037132
NM_006623.4(PHGDH):c.139-5T>C
NM_006623.4(PHGDH):c.139-6C>T
NM_006623.4(PHGDH):c.139-7G>A
NM_006623.4(PHGDH):c.139-7G>T rs1460987400
NM_006623.4(PHGDH):c.139-9C>G
NM_006623.4(PHGDH):c.1393C>T (p.Leu465=)
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
NM_006623.4(PHGDH):c.1398C>T (p.Leu466=)
NM_006623.4(PHGDH):c.1399C>T (p.Leu467=)
NM_006623.4(PHGDH):c.13A>G (p.Asn5Asp) rs745781701
NM_006623.4(PHGDH):c.1401A>C (p.Leu467=) rs768039058
NM_006623.4(PHGDH):c.1401A>T (p.Leu467=) rs768039058
NM_006623.4(PHGDH):c.1405C>T (p.Arg469Trp)
NM_006623.4(PHGDH):c.1413G>A (p.Gln471=)
NM_006623.4(PHGDH):c.1413G>T (p.Gln471His)
NM_006623.4(PHGDH):c.1416C>A (p.Thr472=)
NM_006623.4(PHGDH):c.1416C>T (p.Thr472=)
NM_006623.4(PHGDH):c.1422C>T (p.Asp474=) rs2101225739
NM_006623.4(PHGDH):c.1423C>T (p.Pro475Ser) rs757928289
NM_006623.4(PHGDH):c.1426G>A (p.Ala476Thr)
NM_006623.4(PHGDH):c.1428A>G (p.Ala476=) rs2101225800
NM_006623.4(PHGDH):c.1429dup (p.Met477fs)
NM_006623.4(PHGDH):c.142T>C (p.Cys48Arg) rs1296126379
NM_006623.4(PHGDH):c.1430T>C (p.Met477Thr)
NM_006623.4(PHGDH):c.1437_1440del (p.Pro479_Thr480insTer) rs2101225889
NM_006623.4(PHGDH):c.1438A>G (p.Thr480Ala)
NM_006623.4(PHGDH):c.143G>A (p.Cys48Tyr)
NM_006623.4(PHGDH):c.1440C>G (p.Thr480=)
NM_006623.4(PHGDH):c.1441A>G (p.Met481Val)
NM_006623.4(PHGDH):c.1442T>C (p.Met481Thr)
NM_006623.4(PHGDH):c.1447+10G>A rs1259366206
NM_006623.4(PHGDH):c.1447+18G>A rs1652288973
NM_006623.4(PHGDH):c.1447+9G>T rs200578872
NM_006623.4(PHGDH):c.1448-16T>C rs2101228802
NM_006623.4(PHGDH):c.1448-18A>G
NM_006623.4(PHGDH):c.1448-8A>G rs1652325929
NM_006623.4(PHGDH):c.1448-9T>C
NM_006623.4(PHGDH):c.1449C>A (p.Gly483=) rs1652326306
NM_006623.4(PHGDH):c.1457C>A (p.Ala486Glu)
NM_006623.4(PHGDH):c.1458A>G (p.Ala486=)
NM_006623.4(PHGDH):c.1467C>A (p.Gly489=)
NM_006623.4(PHGDH):c.1467C>G (p.Gly489=)
NM_006623.4(PHGDH):c.1472G>A (p.Arg491Gln) rs1452461315
NM_006623.4(PHGDH):c.1473G>T (p.Arg491=)
NM_006623.4(PHGDH):c.1477C>T (p.Leu493=)
NM_006623.4(PHGDH):c.1485C>G (p.Tyr495Ter)
NM_006623.4(PHGDH):c.1491T>A (p.Thr497=) rs1557983680
NM_006623.4(PHGDH):c.1494A>C (p.Ser498=)
NM_006623.4(PHGDH):c.1497G>A (p.Leu499=)
NM_006623.4(PHGDH):c.1497G>T (p.Leu499=)
NM_006623.4(PHGDH):c.1499del (p.Val500fs)
NM_006623.4(PHGDH):c.1514C>T (p.Thr505Ile)
NM_006623.4(PHGDH):c.1518G>A (p.Trp506Ter)
NM_006623.4(PHGDH):c.1522G>A (p.Val508Ile)
NM_006623.4(PHGDH):c.1526T>C (p.Met509Thr)
NM_006623.4(PHGDH):c.1545G>T (p.Leu515=) rs1265382006
NM_006623.4(PHGDH):c.1548C>T (p.Pro516=) rs2101229419
NM_006623.4(PHGDH):c.1554G>A (p.Leu518=)
NM_006623.4(PHGDH):c.1558G>A (p.Ala520Thr)
NM_006623.4(PHGDH):c.1559C>T (p.Ala520Val)
NM_006623.4(PHGDH):c.1560G>T (p.Ala520=)
NM_006623.4(PHGDH):c.1565_1566del (p.Lys522fs)
NM_006623.4(PHGDH):c.1571A>G (p.His524Arg) rs2101229584
NM_006623.4(PHGDH):c.1572T>C (p.His524=)
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.1583C>T (p.Ala528Val) rs141408688
NM_006623.4(PHGDH):c.1587C>T (p.Phe529=)
NM_006623.4(PHGDH):c.1593C>T (p.Phe531=)
NM_006623.4(PHGDH):c.1599C>T (p.Phe533=) rs778576636
NM_006623.4(PHGDH):c.162C>G (p.Arg54=)
NM_006623.4(PHGDH):c.16C>T (p.Leu6=) rs1557961852
NM_006623.4(PHGDH):c.171del (p.Lys58fs) rs750368565
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.1A>C (p.Met1Leu)
NM_006623.4(PHGDH):c.1A>G (p.Met1Val) rs1331155296
NM_006623.4(PHGDH):c.201T>C (p.Ala67=) rs1167677460
NM_006623.4(PHGDH):c.20G>C (p.Arg7Pro) rs1650717022
NM_006623.4(PHGDH):c.211C>T (p.Gln71Ter)
NM_006623.4(PHGDH):c.214G>A (p.Val72Met) rs958052810
NM_006623.4(PHGDH):c.216G>A (p.Val72=)
NM_006623.4(PHGDH):c.216G>C (p.Val72=) rs1651146348
NM_006623.4(PHGDH):c.218_219insTT (p.Gly74fs)
NM_006623.4(PHGDH):c.223A>C (p.Arg75=) rs1177622207
NM_006623.4(PHGDH):c.234A>C (p.Thr78=)
NM_006623.4(PHGDH):c.240G>T (p.Val80=) rs1232918316
NM_006623.4(PHGDH):c.242A>T (p.Asp81Val)
NM_006623.4(PHGDH):c.243C>T (p.Asp81=)
NM_006623.4(PHGDH):c.245A>G (p.Asn82Ser) rs587625944
NM_006623.4(PHGDH):c.246T>C (p.Asn82=) rs1651149194
NM_006623.4(PHGDH):c.249G>T (p.Val83=)
NM_006623.4(PHGDH):c.24A>T (p.Lys8Asn) rs2101136375
NM_006623.4(PHGDH):c.250G>T (p.Asp84Tyr)
NM_006623.4(PHGDH):c.264A>G (p.Ala88=)
NM_006623.4(PHGDH):c.266C>A (p.Thr89Lys) rs1651150753
NM_006623.4(PHGDH):c.267A>C (p.Thr89=) rs767488641
NM_006623.4(PHGDH):c.270G>A (p.Arg90=) rs2101155256
NM_006623.4(PHGDH):c.271_274del (p.Lys91fs) rs2101155246
NM_006623.4(PHGDH):c.275G>A (p.Gly92Asp)
NM_006623.4(PHGDH):c.279C>A (p.Ile93=)
NM_006623.4(PHGDH):c.280T>C (p.Leu94=)
NM_006623.4(PHGDH):c.281T>G (p.Leu94Trp) rs1651151523
NM_006623.4(PHGDH):c.282G>A (p.Leu94=) rs1477824093
NM_006623.4(PHGDH):c.285T>C (p.Val95=)
NM_006623.4(PHGDH):c.290+14G>C
NM_006623.4(PHGDH):c.290+16T>A
NM_006623.4(PHGDH):c.290+18C>A rs779206688
NM_006623.4(PHGDH):c.290+18_290+25del
NM_006623.4(PHGDH):c.290+19G>A rs746145056
NM_006623.4(PHGDH):c.290+19G>T rs746145056
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006623.4(PHGDH):c.290+3A>C rs2101155326
NM_006623.4(PHGDH):c.290+6T>C
NM_006623.4(PHGDH):c.290+8A>G
NM_006623.4(PHGDH):c.290+9T>A rs1651152863
NM_006623.4(PHGDH):c.291-13C>G
NM_006623.4(PHGDH):c.291-14T>C rs1651260693
NM_006623.4(PHGDH):c.291-19C>T
NM_006623.4(PHGDH):c.291-1G>A rs2101160151
NM_006623.4(PHGDH):c.291-3del rs2101160136
NM_006623.4(PHGDH):c.291-6C>T
NM_006623.4(PHGDH):c.291-7T>A
NM_006623.4(PHGDH):c.294C>T (p.Thr98=)
NM_006623.4(PHGDH):c.299A>G (p.Asn100Ser)
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr) rs951372478
NM_006623.4(PHGDH):c.300T>C (p.Asn100=)
NM_006623.4(PHGDH):c.303G>C (p.Gly101=)
NM_006623.4(PHGDH):c.304A>T (p.Asn102Tyr)
NM_006623.4(PHGDH):c.30C>T (p.Leu10=) rs2101136394
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.327C>T (p.Leu109=) rs1352957356
NM_006623.4(PHGDH):c.336A>C (p.Gly112=)
NM_006623.4(PHGDH):c.336A>G (p.Gly112=) rs1174976585
NM_006623.4(PHGDH):c.336A>T (p.Gly112=)
NM_006623.4(PHGDH):c.348C>A (p.Cys116Ter) rs2101160478
NM_006623.4(PHGDH):c.349C>T (p.Leu117=) rs2101160489
NM_006623.4(PHGDH):c.351G>C (p.Leu117=)
NM_006623.4(PHGDH):c.356+11G>C
NM_006623.4(PHGDH):c.356+12A>G
NM_006623.4(PHGDH):c.356+13_356+14del
NM_006623.4(PHGDH):c.356+2T>G rs1651264976
NM_006623.4(PHGDH):c.356+3A>G
NM_006623.4(PHGDH):c.356+7C>A rs1570993643
NM_006623.4(PHGDH):c.357-10A>C
NM_006623.4(PHGDH):c.357-15T>C
NM_006623.4(PHGDH):c.357-15T>G rs2101171045
NM_006623.4(PHGDH):c.357-16G>C
NM_006623.4(PHGDH):c.357-18C>T
NM_006623.4(PHGDH):c.357-19C>A
NM_006623.4(PHGDH):c.357-3C>A
NM_006623.4(PHGDH):c.357-4G>A rs2101171094
NM_006623.4(PHGDH):c.357-4G>T
NM_006623.4(PHGDH):c.357-6T>C rs2101171082
NM_006623.4(PHGDH):c.357-6T>G
NM_006623.4(PHGDH):c.357-9T>C rs1173989487
NM_006623.4(PHGDH):c.357G>T (p.Arg119Ser)
NM_006623.4(PHGDH):c.358C>T (p.Gln120Ter)
NM_006623.4(PHGDH):c.35G>T (p.Ser12Ile)
NM_006623.4(PHGDH):c.363del (p.Gln123fs) rs781273456
NM_006623.4(PHGDH):c.364C>G (p.Pro122Ala)
NM_006623.4(PHGDH):c.364_365delinsTT (p.Pro122Phe) rs2101171167
NM_006623.4(PHGDH):c.366C>T (p.Pro122=)
NM_006623.4(PHGDH):c.371C>T (p.Ala124Val)
NM_006623.4(PHGDH):c.372G>T (p.Ala124=) rs146740411
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.381G>C (p.Ser127=) rs886045205
NM_006623.4(PHGDH):c.381G>T (p.Ser127=)
NM_006623.4(PHGDH):c.385A>T (p.Lys129Ter)
NM_006623.4(PHGDH):c.391G>A (p.Gly131Ser)
NM_006623.4(PHGDH):c.395A>G (p.Lys132Arg)
NM_006623.4(PHGDH):c.396A>G (p.Lys132=)
NM_006623.4(PHGDH):c.398G>A (p.Trp133Ter)
NM_006623.4(PHGDH):c.399G>A (p.Trp133Ter)
NM_006623.4(PHGDH):c.399G>C (p.Trp133Cys) rs1651447610
NM_006623.4(PHGDH):c.403C>A (p.Arg135=)
NM_006623.4(PHGDH):c.403C>G (p.Arg135Gly)
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.408G>A (p.Lys136=)
NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly) rs1448633854
NM_006623.4(PHGDH):c.411+11G>A
NM_006623.4(PHGDH):c.411+16G>T
NM_006623.4(PHGDH):c.411+18C>T rs1388415964
NM_006623.4(PHGDH):c.411+20C>T
NM_006623.4(PHGDH):c.411+2T>C rs1302054606
NM_006623.4(PHGDH):c.411+3G>A
NM_006623.4(PHGDH):c.411+5G>T rs775568707
NM_006623.4(PHGDH):c.411+9C>A rs187075075
NM_006623.4(PHGDH):c.412-16G>C
NM_006623.4(PHGDH):c.412-1G>A
NM_006623.4(PHGDH):c.412-1G>C rs1651455730
NM_006623.4(PHGDH):c.412-4G>A
NM_006623.4(PHGDH):c.412-8G>C
NM_006623.4(PHGDH):c.412-8G>T
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.423A>G (p.Thr141=)
NM_006623.4(PHGDH):c.426G>A (p.Glu142=)
NM_006623.4(PHGDH):c.427C>A (p.Leu143Met) rs143155925
NM_006623.4(PHGDH):c.427C>T (p.Leu143=) rs143155925
NM_006623.4(PHGDH):c.42C>T (p.Ser14=)
NM_006623.4(PHGDH):c.438G>A (p.Lys146=)
NM_006623.4(PHGDH):c.447A>T (p.Gly149=)
NM_006623.4(PHGDH):c.457C>T (p.Leu153=)
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.462C>A (p.Gly154=) rs752236796
NM_006623.4(PHGDH):c.462C>G (p.Gly154=) rs752236796
NM_006623.4(PHGDH):c.462C>T (p.Gly154=)
NM_006623.4(PHGDH):c.472A>G (p.Arg158Gly)
NM_006623.4(PHGDH):c.474A>G (p.Arg158=)
NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly) rs756996899
NM_006623.4(PHGDH):c.476_477del (p.Glu159fs)
NM_006623.4(PHGDH):c.480A>G (p.Val160=)
NM_006623.4(PHGDH):c.483dup (p.Thr162fs)
NM_006623.4(PHGDH):c.486C>G (p.Thr162=) rs1054405028
NM_006623.4(PHGDH):c.486C>T (p.Thr162=) rs1054405028
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006623.4(PHGDH):c.498C>A (p.Ser166=)
NM_006623.4(PHGDH):c.498C>T (p.Ser166=)
NM_006623.4(PHGDH):c.500T>C (p.Phe167Ser)
NM_006623.4(PHGDH):c.504G>A (p.Gly168=) rs2101172535
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.509del (p.Lys170fs)
NM_006623.4(PHGDH):c.510+10T>C
NM_006623.4(PHGDH):c.510+12C>T rs932348459
NM_006623.4(PHGDH):c.510+15G>T
NM_006623.4(PHGDH):c.510+18C>T
NM_006623.4(PHGDH):c.510+8G>A
NM_006623.4(PHGDH):c.511-10T>G
NM_006623.4(PHGDH):c.511-13T>G rs1571009081
NM_006623.4(PHGDH):c.511-14T>C
NM_006623.4(PHGDH):c.511-15C>T
NM_006623.4(PHGDH):c.511-16T>C
NM_006623.4(PHGDH):c.511-17C>A
NM_006623.4(PHGDH):c.511-17C>G
NM_006623.4(PHGDH):c.511-17C>T
NM_006623.4(PHGDH):c.511-19C>G
NM_006623.4(PHGDH):c.511-20T>C
NM_006623.4(PHGDH):c.511-2A>G rs2101195348
NM_006623.4(PHGDH):c.511-5A>G
NM_006623.4(PHGDH):c.511-5A>T
NM_006623.4(PHGDH):c.511-5del rs2101195325
NM_006623.4(PHGDH):c.511-9T>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.525C>T (p.Asp175=)
NM_006623.4(PHGDH):c.528C>T (p.Pro176=) rs2101195431
NM_006623.4(PHGDH):c.537C>A (p.Ser179=)
NM_006623.4(PHGDH):c.543G>A (p.Glu181=) rs886045206
NM_006623.4(PHGDH):c.546C>T (p.Val182=)
NM_006623.4(PHGDH):c.552C>T (p.Ala184=) rs761331510
NM_006623.4(PHGDH):c.555C>A (p.Ser185=) rs1484089549
NM_006623.4(PHGDH):c.570G>A (p.Gln190=)
NM_006623.4(PHGDH):c.574C>T (p.Pro192Ser)
NM_006623.4(PHGDH):c.578del (p.Leu193fs)
NM_006623.4(PHGDH):c.579G>A (p.Leu193=) rs1651854823
NM_006623.4(PHGDH):c.588C>A (p.Ile196=)
NM_006623.4(PHGDH):c.606C>T (p.Phe202=)
NM_006623.4(PHGDH):c.612T>C (p.Thr204=) rs2101195879
NM_006623.4(PHGDH):c.619A>T (p.Thr207Ser)
NM_006623.4(PHGDH):c.627C>A (p.Leu209=) rs2101195942
NM_006623.4(PHGDH):c.627C>G (p.Leu209=) rs2101195942
NM_006623.4(PHGDH):c.627C>T (p.Leu209=) rs2101195942
NM_006623.4(PHGDH):c.628C>T (p.Leu210=)
NM_006623.4(PHGDH):c.62A>C (p.Lys21Thr) rs891735095
NM_006623.4(PHGDH):c.638C>T (p.Thr213Met)
NM_006623.4(PHGDH):c.63G>A (p.Lys21=)
NM_006623.4(PHGDH):c.643+13T>A
NM_006623.4(PHGDH):c.643+1G>A
NM_006623.4(PHGDH):c.643+20G>A
NM_006623.4(PHGDH):c.643+20G>T
NM_006623.4(PHGDH):c.643+7G>T rs943894952
NM_006623.4(PHGDH):c.644-16C>T
NM_006623.4(PHGDH):c.644-17G>A
NM_006623.4(PHGDH):c.644-17G>C
NM_006623.4(PHGDH):c.644-18T>C
NM_006623.4(PHGDH):c.644-20G>A
NM_006623.4(PHGDH):c.644-6T>C
NM_006623.4(PHGDH):c.644-7C>A
NM_006623.4(PHGDH):c.644-9T>A
NM_006623.4(PHGDH):c.644-9T>G rs1388567211
NM_006623.4(PHGDH):c.658A>C (p.Asn220His) rs2101198018
NM_006623.4(PHGDH):c.659A>T (p.Asn220Ile)
NM_006623.4(PHGDH):c.661_662del (p.Thr221fs) rs1651881638
NM_006623.4(PHGDH):c.665_666dup (p.Ala223fs)
NM_006623.4(PHGDH):c.670C>T (p.Gln224Ter) rs2101198087
NM_006623.4(PHGDH):c.674G>A (p.Cys225Tyr) rs2101198107
NM_006623.4(PHGDH):c.675C>T (p.Cys225=)
NM_006623.4(PHGDH):c.678G>A (p.Lys226=) rs2101198131
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>A (p.Leu23Ter)
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.699C>T (p.Asn233=) rs2101198306
NM_006623.4(PHGDH):c.69G>C (p.Leu23Phe) rs2101136517
NM_006623.4(PHGDH):c.709G>T (p.Gly237Ter) rs1341545186
NM_006623.4(PHGDH):c.713G>T (p.Gly238Val) rs2101198427
NM_006623.4(PHGDH):c.714del (p.Ile239fs) rs730882181
NM_006623.4(PHGDH):c.717C>T (p.Ile239=) rs1324025863
NM_006623.4(PHGDH):c.720G>T (p.Val240=) rs773300796
NM_006623.4(PHGDH):c.721G>A (p.Asp241Asn)
NM_006623.4(PHGDH):c.729C>T (p.Gly243=)
NM_006623.4(PHGDH):c.72A>G (p.Gln24=)
NM_006623.4(PHGDH):c.730G>A (p.Ala244Thr)
NM_006623.4(PHGDH):c.735G>C (p.Leu245=)
NM_006623.4(PHGDH):c.737delinsCC (p.Leu246fs)
NM_006623.4(PHGDH):c.738C>G (p.Leu246=) rs753236992
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.747G>A (p.Leu249=)
NM_006623.4(PHGDH):c.753T>A (p.Ser251=)
NM_006623.4(PHGDH):c.753T>C (p.Ser251=) rs2101198705
NM_006623.4(PHGDH):c.764C>T (p.Ala255Val) rs1571010631
NM_006623.4(PHGDH):c.765del (p.Ala257fs)
NM_006623.4(PHGDH):c.766G>A (p.Gly256Arg)
NM_006623.4(PHGDH):c.76_80delinsCTT (p.Gly26fs)
NM_006623.4(PHGDH):c.771T>C (p.Ala257=)
NM_006623.4(PHGDH):c.775C>T (p.Leu259=) rs139830902
NM_006623.4(PHGDH):c.775del (p.Leu259fs)
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.789G>A (p.Thr263=)
NM_006623.4(PHGDH):c.789G>C (p.Thr263=) rs368452731
NM_006623.4(PHGDH):c.78_91del (p.Leu28fs)
NM_006623.4(PHGDH):c.792+13C>A
NM_006623.4(PHGDH):c.792+16C>T rs2101199027
NM_006623.4(PHGDH):c.792+17C>T
NM_006623.4(PHGDH):c.792+20A>G rs1651889944
NM_006623.4(PHGDH):c.792+6T>C rs146953046
NM_006623.4(PHGDH):c.792+7G>A rs774410126
NM_006623.4(PHGDH):c.793-11T>G rs770897520
NM_006623.4(PHGDH):c.793-12C>G
NM_006623.4(PHGDH):c.793-14C>T
NM_006623.4(PHGDH):c.793-15T>C
NM_006623.4(PHGDH):c.793-18G>C
NM_006623.4(PHGDH):c.793-20A>C
NM_006623.4(PHGDH):c.793-4G>T
NM_006623.4(PHGDH):c.793-5G>T
NM_006623.4(PHGDH):c.793-7T>C rs2101204358
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys) rs587777774
NM_006623.4(PHGDH):c.795G>A (p.Glu265=)
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.819G>A (p.Val273=)
NM_006623.4(PHGDH):c.824A>G (p.His275Arg)
NM_006623.4(PHGDH):c.828G>A (p.Glu276=) rs1478978406
NM_006623.4(PHGDH):c.834C>T (p.Val278=)
NM_006623.4(PHGDH):c.837C>T (p.Ile279=)
NM_006623.4(PHGDH):c.846C>T (p.Pro282=)
NM_006623.4(PHGDH):c.84G>A (p.Leu28=)
NM_006623.4(PHGDH):c.851T>C (p.Leu284Pro)
NM_006623.4(PHGDH):c.852G>C (p.Leu284=) rs1297161098
NM_006623.4(PHGDH):c.852G>T (p.Leu284=) rs1297161098
NM_006623.4(PHGDH):c.854G>A (p.Gly285Asp)
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) rs587777775
NM_006623.4(PHGDH):c.859del (p.Ser287fs)
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.870G>A (p.Glu290=) rs1355536303
NM_006623.4(PHGDH):c.874C>T (p.Gln292Ter) rs749134845
NM_006623.4(PHGDH):c.87G>T (p.Gln29His)
NM_006623.4(PHGDH):c.881G>T (p.Arg294Leu)
NM_006623.4(PHGDH):c.889G>T (p.Glu297Ter) rs1489498331
NM_006623.4(PHGDH):c.889del (p.Glu297fs)
NM_006623.4(PHGDH):c.891G>A (p.Glu297=)
NM_006623.4(PHGDH):c.894A>C (p.Glu298Asp)
NM_006623.4(PHGDH):c.900T>C (p.Ala300=)
NM_006623.4(PHGDH):c.901del (p.Val301fs) rs1571013274
NM_006623.4(PHGDH):c.907T>C (p.Phe303Leu)
NM_006623.4(PHGDH):c.919del (p.Met306_Val307insTer) rs2101205361
NM_006623.4(PHGDH):c.930A>G (p.Lys310=) rs1651981974
NM_006623.4(PHGDH):c.938C>T (p.Thr313Met)
NM_006623.4(PHGDH):c.939G>A (p.Thr313=)
NM_006623.4(PHGDH):c.939G>C (p.Thr313=)
NM_006623.4(PHGDH):c.93G>A (p.Val31=)
NM_006623.4(PHGDH):c.940G>A (p.Gly314Arg)
NM_006623.4(PHGDH):c.945+11C>T
NM_006623.4(PHGDH):c.945+14C>T
NM_006623.4(PHGDH):c.945+15C>G
NM_006623.4(PHGDH):c.945+17G>A
NM_006623.4(PHGDH):c.945+1G>A rs758517215
NM_006623.4(PHGDH):c.945+1G>T rs758517215
NM_006623.4(PHGDH):c.945+20G>A rs374620703
NM_006623.4(PHGDH):c.945+9_945+10insCTGGC rs777871013
NM_006623.4(PHGDH):c.946-11A>T
NM_006623.4(PHGDH):c.946-16C>G
NM_006623.4(PHGDH):c.946-16C>T
NM_006623.4(PHGDH):c.946-19G>A rs745359903
NM_006623.4(PHGDH):c.946-2A>G rs1217925678
NM_006623.4(PHGDH):c.946-7T>C
NM_006623.4(PHGDH):c.946G>C (p.Val316Leu) rs146398308
NM_006623.4(PHGDH):c.94_110del (p.Glu32fs)
NM_006623.4(PHGDH):c.953C>T (p.Ala318Val) rs1030988421
NM_006623.4(PHGDH):c.958_968del (p.Ala320fs) rs1398758559
NM_006623.4(PHGDH):c.960C>G (p.Ala320=) rs2101215979
NM_006623.4(PHGDH):c.960C>T (p.Ala320=) rs2101215979
NM_006623.4(PHGDH):c.971C>T (p.Ala324Val)
NM_006623.4(PHGDH):c.972C>G (p.Ala324=)
NM_006623.4(PHGDH):c.972C>T (p.Ala324=) rs2101216070
NM_006623.4(PHGDH):c.975C>T (p.Phe325=)
NM_006623.4(PHGDH):c.981A>T (p.Pro327=)
NM_006623.4(PHGDH):c.984C>T (p.His328=)
NM_006623.4(PHGDH):c.990G>A (p.Lys330=) rs2101216214
NM_006623.4(PHGDH):c.991C>A (p.Pro331Thr)
NM_006623.4(PHGDH):c.991C>T (p.Pro331Ser) rs370562656
NM_006623.4(PHGDH):c.992del (p.Pro331fs)
NM_006623.4(PHGDH):c.996G>A (p.Trp332Ter) rs2101216259
NM_006623.4(PHGDH):c.99G>A (p.Lys33=) rs2101136591

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.