ClinVar Miner

List of variants reported as likely benign for PHGDH deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 432
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HGVS dbSNP gnomAD frequency
NM_006623.3(PHGDH):c.*200A>G rs17258425 0.11740
NM_005518.4(HMGCS2):c.*332A>C rs56828380 0.02618
NM_006623.4(PHGDH):c.318C>T (p.Ala106=) rs115747918 0.01251
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_005518.4(HMGCS2):c.*165C>T rs138575225 0.01059
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.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.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.985A>T (p.Thr329Ser) rs201298102 0.00064
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00030
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.411+9C>T rs187075075 0.00019
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=) rs374303746 0.00016
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.139-19A>G rs773408065 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_006623.4(PHGDH):c.1560G>A (p.Ala520=) rs145788723 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.1255G>A (p.Gly419Arg) rs145344767 0.00006
NM_006623.4(PHGDH):c.1467C>T (p.Gly489=) rs754658401 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.372G>A (p.Ala124=) rs146740411 0.00005
NM_006623.4(PHGDH):c.549G>A (p.Ser183=) rs776140200 0.00005
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.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.1044G>T (p.Gly348=) rs761417256 0.00003
NM_006623.4(PHGDH):c.1224C>T (p.His408=) rs746907048 0.00003
NM_006623.4(PHGDH):c.1401A>G (p.Leu467=) rs768039058 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.903T>G (p.Val301=) rs777075726 0.00003
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.1365A>G (p.Pro455=) rs1264262485 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.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.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.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.1179T>C (p.Ala393=) rs754034829 0.00001
NM_006623.4(PHGDH):c.1194A>G (p.Lys398=) rs747965439 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.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.1434G>A (p.Leu478=) rs1420781632 0.00001
NM_006623.4(PHGDH):c.1447+13C>T rs143612626 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.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.21G>C (p.Arg7=) rs1650717107 0.00001
NM_006623.4(PHGDH):c.225G>A (p.Arg75=) rs1441422663 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.357-10A>G rs773131387 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.48C>T (p.Asp16=) rs765678440 0.00001
NM_006623.4(PHGDH):c.534T>C (p.Ile178=) rs1467975689 0.00001
NM_006623.4(PHGDH):c.54C>T (p.Cys18=) rs1236966373 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.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.732C>T (p.Ala244=) rs767968310 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.798G>A (p.Pro266=) rs761104723 0.00001
NM_006623.4(PHGDH):c.81G>C (p.Gly27=) rs1157171557 0.00001
NM_006623.4(PHGDH):c.849C>T (p.His283=) rs1651976766 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.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
NM_006623.4(PHGDH):c.1003C>T (p.Leu335=) rs2101216283
NM_006623.4(PHGDH):c.102G>A (p.Gln34=)
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.105C>T (p.Asn35=)
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+7T>C rs2101216709
NM_006623.4(PHGDH):c.1079-14C>T rs755593718
NM_006623.4(PHGDH):c.1079-17C>G
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.1086C>T (p.Ser362=)
NM_006623.4(PHGDH):c.1089G>C (p.Leu363=)
NM_006623.4(PHGDH):c.1108C>T (p.Leu370=)
NM_006623.4(PHGDH):c.1110A>G (p.Leu370=)
NM_006623.4(PHGDH):c.1113C>T (p.Ser371=)
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.1158G>A (p.Ala386=) rs144484007
NM_006623.4(PHGDH):c.1185G>C (p.Leu395=) rs1652224641
NM_006623.4(PHGDH):c.1185G>T (p.Leu395=)
NM_006623.4(PHGDH):c.1197G>A (p.Glu399=) rs758882501
NM_006623.4(PHGDH):c.1206C>T (p.Leu402=)
NM_006623.4(PHGDH):c.1209+14C>T
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+19C>G
NM_006623.4(PHGDH):c.1209+20G>A
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.1210-13C>T
NM_006623.4(PHGDH):c.1210-14C>A
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.1210-4A>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.1233T>C (p.Ala411=) rs2101224620
NM_006623.4(PHGDH):c.1236A>C (p.Ala412=) rs2101224630
NM_006623.4(PHGDH):c.1242G>A (p.Gly414=) rs2101224665
NM_006623.4(PHGDH):c.1266C>T (p.Leu422=)
NM_006623.4(PHGDH):c.1278C>T (p.Ala426=) rs2101224812
NM_006623.4(PHGDH):c.1281G>A (p.Leu427=)
NM_006623.4(PHGDH):c.1284A>G (p.Ala428=) rs1244466093
NM_006623.4(PHGDH):c.1299G>A (p.Gln433=) rs900277109
NM_006623.4(PHGDH):c.12A>T (p.Ala4=)
NM_006623.4(PHGDH):c.1308C>T (p.Gly436=) rs2101224967
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.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.1341G>T (p.Gly447=)
NM_006623.4(PHGDH):c.1344C>A (p.Leu448=) rs1390869782
NM_006623.4(PHGDH):c.1362G>A (p.Arg454=)
NM_006623.4(PHGDH):c.138+12G>A
NM_006623.4(PHGDH):c.138+19A>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.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.139-5T>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.1393C>T (p.Leu465=)
NM_006623.4(PHGDH):c.1399C>T (p.Leu467=)
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.1413G>A (p.Gln471=)
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.1428A>G (p.Ala476=) rs2101225800
NM_006623.4(PHGDH):c.1440C>G (p.Thr480=)
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.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.1473G>T (p.Arg491=)
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.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.1560G>T (p.Ala520=)
NM_006623.4(PHGDH):c.1572T>C (p.His524=)
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.201T>C (p.Ala67=) rs1167677460
NM_006623.4(PHGDH):c.216G>A (p.Val72=)
NM_006623.4(PHGDH):c.216G>C (p.Val72=) rs1651146348
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.243C>T (p.Asp81=)
NM_006623.4(PHGDH):c.246T>C (p.Asn82=) rs1651149194
NM_006623.4(PHGDH):c.249G>T (p.Val83=)
NM_006623.4(PHGDH):c.264A>G (p.Ala88=)
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.279C>A (p.Ile93=)
NM_006623.4(PHGDH):c.280T>C (p.Leu94=)
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+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.291-3del 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.300T>C (p.Asn100=)
NM_006623.4(PHGDH):c.303G>C (p.Gly101=)
NM_006623.4(PHGDH):c.30C>T (p.Leu10=) rs2101136394
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.349C>T (p.Leu117=) rs2101160489
NM_006623.4(PHGDH):c.356+11G>C
NM_006623.4(PHGDH):c.356+13_356+14del
NM_006623.4(PHGDH):c.356+7C>A rs1570993643
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.357-4G>A rs2101171094
NM_006623.4(PHGDH):c.357-4G>T
NM_006623.4(PHGDH):c.357-6T>C rs2101171082
NM_006623.4(PHGDH):c.357-9T>C rs1173989487
NM_006623.4(PHGDH):c.366C>T (p.Pro122=)
NM_006623.4(PHGDH):c.372G>T (p.Ala124=) rs146740411
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.396A>G (p.Lys132=)
NM_006623.4(PHGDH):c.403C>A (p.Arg135=)
NM_006623.4(PHGDH):c.408G>A (p.Lys136=)
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+9C>A rs187075075
NM_006623.4(PHGDH):c.412-16G>C
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.423A>G (p.Thr141=)
NM_006623.4(PHGDH):c.426G>A (p.Glu142=)
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.462C>A (p.Gly154=) rs752236796
NM_006623.4(PHGDH):c.462C>G (p.Gly154=) rs752236796
NM_006623.4(PHGDH):c.474A>G (p.Arg158=)
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.498C>A (p.Ser166=)
NM_006623.4(PHGDH):c.498C>T (p.Ser166=)
NM_006623.4(PHGDH):c.504G>A (p.Gly168=) rs2101172535
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.511-14T>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.511-5A>T
NM_006623.4(PHGDH):c.511-5del rs2101195325
NM_006623.4(PHGDH):c.511-9T>G
NM_006623.4(PHGDH):c.519G>A (p.Gly173=) rs754326499
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.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.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.643+13T>A
NM_006623.4(PHGDH):c.643+20G>A
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.675C>T (p.Cys225=)
NM_006623.4(PHGDH):c.678G>A (p.Lys226=) rs2101198131
NM_006623.4(PHGDH):c.699C>T (p.Asn233=) rs2101198306
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.729C>T (p.Gly243=)
NM_006623.4(PHGDH):c.72A>G (p.Gln24=)
NM_006623.4(PHGDH):c.735G>C (p.Leu245=)
NM_006623.4(PHGDH):c.738C>G (p.Leu246=) rs753236992
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.771T>C (p.Ala257=)
NM_006623.4(PHGDH):c.775C>T (p.Leu259=) rs139830902
NM_006623.4(PHGDH):c.789G>A (p.Thr263=)
NM_006623.4(PHGDH):c.789G>C (p.Thr263=) rs368452731
NM_006623.4(PHGDH):c.792+17C>T
NM_006623.4(PHGDH):c.792+20A>G rs1651889944
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.793-5G>T
NM_006623.4(PHGDH):c.793-7T>C rs2101204358
NM_006623.4(PHGDH):c.795G>A (p.Glu265=)
NM_006623.4(PHGDH):c.819G>A (p.Val273=)
NM_006623.4(PHGDH):c.828G>A (p.Glu276=) rs1478978406
NM_006623.4(PHGDH):c.834C>T (p.Val278=)
NM_006623.4(PHGDH):c.846C>T (p.Pro282=)
NM_006623.4(PHGDH):c.84G>A (p.Leu28=)
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.870G>A (p.Glu290=) rs1355536303
NM_006623.4(PHGDH):c.891G>A (p.Glu297=)
NM_006623.4(PHGDH):c.900T>C (p.Ala300=)
NM_006623.4(PHGDH):c.930A>G (p.Lys310=) rs1651981974
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.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+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.946-19G>A rs745359903
NM_006623.4(PHGDH):c.946-7T>C
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.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.99G>A (p.Lys33=) rs2101136591

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