ClinVar Miner

List of variants in gene GPHN reported as uncertain significance for inborn disorder of amino acid and other organic acid metabolism

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 294
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HGVS dbSNP gnomAD frequency
NM_020806.5(GPHN):c.271G>A (p.Ala91Thr) rs140021399 0.00021
NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr) rs121908539 0.00016
NM_020806.5(GPHN):c.390-3C>T rs527251241 0.00010
NM_020806.5(GPHN):c.163G>T (p.Ala55Ser) rs1395600594 0.00007
NM_020806.5(GPHN):c.86A>G (p.Asn29Ser) rs144247888 0.00007
NM_020806.5(GPHN):c.49G>A (p.Val17Ile) rs550187024 0.00005
NM_020806.5(GPHN):c.715G>A (p.Ala239Thr) rs751089463 0.00004
NM_020806.5(GPHN):c.826C>T (p.Arg276Trp) rs777009433 0.00004
NM_020806.5(GPHN):c.1033G>A (p.Val345Met) rs774554831 0.00003
NM_020806.5(GPHN):c.1336A>G (p.Thr446Ala) rs776988756 0.00003
NM_020806.5(GPHN):c.1766A>G (p.Asn589Ser) rs903197780 0.00003
NM_020806.5(GPHN):c.198C>G (p.Ile66Met) rs1231315486 0.00003
NM_020806.5(GPHN):c.509G>A (p.Arg170His) rs371904779 0.00003
NM_020806.5(GPHN):c.914G>A (p.Arg305His) rs778622230 0.00003
NM_020806.5(GPHN):c.1712G>A (p.Gly571Asp) rs762726630 0.00002
NM_020806.5(GPHN):c.1739T>C (p.Val580Ala) rs752190801 0.00002
NM_020806.5(GPHN):c.278G>A (p.Arg93Gln) rs199979921 0.00002
NM_020806.5(GPHN):c.381G>A (p.Met127Ile) rs1057338763 0.00002
NM_020806.5(GPHN):c.496A>G (p.Ile166Val) rs764823306 0.00002
NM_020806.5(GPHN):c.100C>T (p.Arg34Cys) rs771584129 0.00001
NM_020806.5(GPHN):c.1060T>C (p.Phe354Leu) rs1253036953 0.00001
NM_020806.5(GPHN):c.1129A>G (p.Ile377Val) rs776300885 0.00001
NM_020806.5(GPHN):c.1199C>A (p.Pro400His) rs1379719209 0.00001
NM_020806.5(GPHN):c.1238-3C>T rs1233468655 0.00001
NM_020806.5(GPHN):c.1300C>G (p.Gln434Glu) rs770441465 0.00001
NM_020806.5(GPHN):c.1328G>A (p.Arg443Gln) rs745338809 0.00001
NM_020806.5(GPHN):c.1334C>T (p.Thr445Ile) rs769253787 0.00001
NM_020806.5(GPHN):c.1350A>G (p.Ile450Met) rs906064417 0.00001
NM_020806.5(GPHN):c.136C>T (p.Pro46Ser) rs777618122 0.00001
NM_020806.5(GPHN):c.1414-14G>A rs1204105791 0.00001
NM_020806.5(GPHN):c.1676A>G (p.Asn559Ser) rs1161767597 0.00001
NM_020806.5(GPHN):c.1678C>T (p.Arg560Cys) rs1567363565 0.00001
NM_020806.5(GPHN):c.1679G>A (p.Arg560His) rs1364702887 0.00001
NM_020806.5(GPHN):c.1735A>G (p.Ile579Val) rs1325847946 0.00001
NM_020806.5(GPHN):c.1738G>T (p.Val580Leu) rs1204402891 0.00001
NM_020806.5(GPHN):c.1753G>C (p.Asp585His) rs1018860844 0.00001
NM_020806.5(GPHN):c.1790G>A (p.Arg597His) rs143010421 0.00001
NM_020806.5(GPHN):c.1804A>G (p.Ile602Val) rs756165409 0.00001
NM_020806.5(GPHN):c.1819G>A (p.Val607Ile) rs2080615843 0.00001
NM_020806.5(GPHN):c.1827G>A (p.Met609Ile) rs1241162359 0.00001
NM_020806.5(GPHN):c.1831G>A (p.Glu611Lys) rs1060499577 0.00001
NM_020806.5(GPHN):c.188T>C (p.Ile63Thr) rs1432346978 0.00001
NM_020806.5(GPHN):c.1911-3T>C rs534360121 0.00001
NM_020806.5(GPHN):c.1927G>A (p.Ala643Thr) rs1406610713 0.00001
NM_020806.5(GPHN):c.1935G>C (p.Leu645Phe) rs1430232015 0.00001
NM_020806.5(GPHN):c.1945G>A (p.Gly649Ser) rs199941391 0.00001
NM_020806.5(GPHN):c.25A>G (p.Thr9Ala) rs1322719524 0.00001
NM_020806.5(GPHN):c.307G>A (p.Val103Ile) rs774132595 0.00001
NM_020806.5(GPHN):c.322G>A (p.Ala108Thr) rs1047755380 0.00001
NM_020806.5(GPHN):c.346C>G (p.Leu116Val) rs755780656 0.00001
NM_020806.5(GPHN):c.535G>A (p.Val179Met) rs778043539 0.00001
NM_020806.5(GPHN):c.543T>G (p.Asp181Glu) rs990423200 0.00001
NM_020806.5(GPHN):c.592A>C (p.Thr198Pro) rs776521403 0.00001
NM_020806.5(GPHN):c.595A>G (p.Thr199Ala) rs970248522 0.00001
NM_020806.5(GPHN):c.652_654del (p.Glu218del) rs759966883 0.00001
NM_020806.5(GPHN):c.670G>A (p.Val224Ile) rs753207665 0.00001
NM_020806.5(GPHN):c.685G>A (p.Asp229Asn) rs761111433 0.00001
NM_020806.5(GPHN):c.716C>G (p.Ala239Gly) rs746967730 0.00001
NM_020806.5(GPHN):c.779A>G (p.Gln260Arg) rs528992608 0.00001
NM_020806.5(GPHN):c.994A>G (p.Ile332Val) rs1446248720 0.00001
NC_000014.8:g.(?_66975246)_(66975319_?)dup
NC_000014.8:g.(?_66975246)_(66975329_?)dup
NC_000014.8:g.(?_66975246)_(67567648_?)dup
NC_000014.8:g.(?_67243162)_(67647654_?)dup
NC_000014.8:g.(?_67291172)_(67291304_?)dup
NC_000014.8:g.(?_67291172)_(67391029_?)del
NC_000014.8:g.(?_67346637)_(67389675_?)del
NC_000014.8:g.(?_67346637)_(67391029_?)del
NC_000014.8:g.(?_67346637)_(67391029_?)dup
NC_000014.8:g.(?_67346637)_(67647654_?)dup
NC_000014.8:g.(?_67431888)_(67647654_?)dup
NC_000014.8:g.(?_67490330)_(67567648_?)del
NC_000014.8:g.(?_67490330)_(67635773_?)del
NC_000014.8:g.(?_67525346)_(67647654_?)dup
NC_000014.8:g.(?_67555680)_(67647654_?)dup
NC_000014.8:g.(?_67626112)_(67647654_?)del
NC_000014.8:g.(?_67646275)_(67647654_?)del
NC_000014.9:g.(?_65957717)_(66508591_?)dup
NC_000014.9:g.(?_66965171)_(67100931_?)dup
NM_020806.5(GPHN):c.1004C>A (p.Ala335Asp) rs1555466432
NM_020806.5(GPHN):c.1007-3T>C
NM_020806.5(GPHN):c.1013G>T (p.Ser338Ile)
NM_020806.5(GPHN):c.1028C>G (p.Thr343Ser)
NM_020806.5(GPHN):c.1036G>A (p.Ala346Thr)
NM_020806.5(GPHN):c.103A>G (p.Ser35Gly)
NM_020806.5(GPHN):c.1046A>G (p.His349Arg)
NM_020806.5(GPHN):c.1048C>T (p.Arg350Cys) rs1802147143
NM_020806.5(GPHN):c.1049G>A (p.Arg350His)
NM_020806.5(GPHN):c.1051A>G (p.Met351Val)
NM_020806.5(GPHN):c.1053G>A (p.Met351Ile)
NM_020806.5(GPHN):c.1067T>C (p.Leu356Pro) rs2153649195
NM_020806.5(GPHN):c.1073C>G (p.Ser358Cys)
NM_020806.5(GPHN):c.1092C>G (p.Ile364Met) rs1339182094
NM_020806.5(GPHN):c.1111C>T (p.Pro371Ser)
NM_020806.5(GPHN):c.1112C>T (p.Pro371Leu)
NM_020806.5(GPHN):c.111A>G (p.Ile37Met) rs2066912188
NM_020806.5(GPHN):c.112A>G (p.Asn38Asp)
NM_020806.5(GPHN):c.1130T>A (p.Ile377Asn)
NM_020806.5(GPHN):c.1136A>T (p.Asn379Ile) rs2153649226
NM_020806.5(GPHN):c.1142G>A (p.Arg381Gln)
NM_020806.5(GPHN):c.1144+6A>G rs753331634
NM_020806.5(GPHN):c.1144G>C (p.Asp382His) rs2153649234
NM_020806.5(GPHN):c.1165G>C (p.Ala389Pro)
NM_020806.5(GPHN):c.1170A>T (p.Gln390His) rs1239161227
NM_020806.5(GPHN):c.1223G>T (p.Gly408Val)
NM_020806.5(GPHN):c.1226A>G (p.Tyr409Cys)
NM_020806.5(GPHN):c.1235G>A (p.Arg412Gln)
NM_020806.5(GPHN):c.1237+6T>C
NM_020806.5(GPHN):c.1238-12T>A
NM_020806.5(GPHN):c.1238-3_1238-2del
NM_020806.5(GPHN):c.1238C>T (p.Ala413Val) rs1555490611
NM_020806.5(GPHN):c.1243G>T (p.Asp415Tyr) rs1567331787
NM_020806.5(GPHN):c.1249C>G (p.Pro417Ala) rs2153678716
NM_020806.5(GPHN):c.1255G>C (p.Asp419His)
NM_020806.5(GPHN):c.1258C>T (p.Arg420Cys)
NM_020806.5(GPHN):c.1268T>C (p.Ile423Thr)
NM_020806.5(GPHN):c.127G>A (p.Val43Ile) rs117256383
NM_020806.5(GPHN):c.1297A>G (p.Thr433Ala)
NM_020806.5(GPHN):c.1328G>T (p.Arg443Leu) rs745338809
NM_020806.5(GPHN):c.1333A>C (p.Thr445Pro) rs1595179146
NM_020806.5(GPHN):c.1342G>T (p.Ala448Ser) rs2153685279
NM_020806.5(GPHN):c.1363G>A (p.Asp455Asn) rs2153685283
NM_020806.5(GPHN):c.1364A>T (p.Asp455Val)
NM_020806.5(GPHN):c.1396A>G (p.Ile466Val)
NM_020806.5(GPHN):c.1413+3A>G
NM_020806.5(GPHN):c.1413+4C>T
NM_020806.5(GPHN):c.1413+5G>A
NM_020806.5(GPHN):c.1429G>C (p.Glu477Gln)
NM_020806.5(GPHN):c.143T>G (p.Leu48Trp)
NM_020806.5(GPHN):c.1444G>C (p.Val482Leu)
NM_020806.5(GPHN):c.1445T>G (p.Val482Gly) rs1567347826
NM_020806.5(GPHN):c.144G>T (p.Leu48Phe) rs1381377609
NM_020806.5(GPHN):c.1453C>T (p.Arg485Trp)
NM_020806.5(GPHN):c.1466A>G (p.Asp489Gly) rs757030425
NM_020806.5(GPHN):c.1466A>T (p.Asp489Val)
NM_020806.5(GPHN):c.1469T>C (p.Ile490Thr)
NM_020806.5(GPHN):c.1469T>G (p.Ile490Ser)
NM_020806.5(GPHN):c.1470C>T (p.Ile490=)
NM_020806.5(GPHN):c.1473-5T>G rs2078467170
NM_020806.5(GPHN):c.1473A>G (p.Arg491=)
NM_020806.5(GPHN):c.1475C>A (p.Pro492His)
NM_020806.5(GPHN):c.1480G>A (p.Gly494Ser)
NM_020806.5(GPHN):c.1481G>T (p.Gly494Val)
NM_020806.5(GPHN):c.148G>A (p.Gly50Ser) rs764797083
NM_020806.5(GPHN):c.1503A>C (p.Glu501Asp) rs2153686895
NM_020806.5(GPHN):c.1528A>G (p.Met510Val)
NM_020806.5(GPHN):c.1544T>C (p.Ile515Thr)
NM_020806.5(GPHN):c.1549C>A (p.Leu517Ile)
NM_020806.5(GPHN):c.154A>G (p.Thr52Ala)
NM_020806.5(GPHN):c.1558A>T (p.Thr520Ser) rs749747472
NM_020806.5(GPHN):c.1575G>T (p.Glu525Asp)
NM_020806.5(GPHN):c.157A>G (p.Ile53Val)
NM_020806.5(GPHN):c.1589A>C (p.Lys530Thr)
NM_020806.5(GPHN):c.158T>C (p.Ile53Thr) rs2153461197
NM_020806.5(GPHN):c.1592T>C (p.Phe531Ser) rs2078474162
NM_020806.5(GPHN):c.1594C>T (p.Pro532Ser) rs2078474378
NM_020806.5(GPHN):c.1609A>T (p.Met537Leu)
NM_020806.5(GPHN):c.1625A>G (p.Glu542Gly)
NM_020806.5(GPHN):c.1627C>T (p.Leu543=)
NM_020806.5(GPHN):c.1642G>C (p.Asp548His) rs2153692260
NM_020806.5(GPHN):c.1658G>A (p.Gly553Glu)
NM_020806.5(GPHN):c.1667G>A (p.Arg556Gln)
NM_020806.5(GPHN):c.1685C>G (p.Thr562Ser)
NM_020806.5(GPHN):c.1691T>C (p.Leu564Pro)
NM_020806.5(GPHN):c.170A>G (p.Lys57Arg)
NM_020806.5(GPHN):c.172A>T (p.Ile58Leu) rs2059386544
NM_020806.5(GPHN):c.1732G>A (p.Gly578Ser) rs2153692294
NM_020806.5(GPHN):c.1733G>A (p.Gly578Asp)
NM_020806.5(GPHN):c.1738G>A (p.Val580Ile) rs1204402891
NM_020806.5(GPHN):c.1744G>A (p.Asp582Asn) rs760218731
NM_020806.5(GPHN):c.1748+6T>A
NM_020806.5(GPHN):c.1765A>G (p.Asn589Asp) rs2080611781
NM_020806.5(GPHN):c.1768G>T (p.Ala590Ser) rs375284004
NM_020806.5(GPHN):c.1769C>T (p.Ala590Val) rs2080612237
NM_020806.5(GPHN):c.1789C>T (p.Arg597Cys)
NM_020806.5(GPHN):c.1796A>T (p.Asp599Val)
NM_020806.5(GPHN):c.1804A>C (p.Ile602Leu)
NM_020806.5(GPHN):c.1805T>G (p.Ile602Ser)
NM_020806.5(GPHN):c.1817G>A (p.Gly606Asp)
NM_020806.5(GPHN):c.1837-16_1837-11del
NM_020806.5(GPHN):c.1886T>G (p.Phe629Cys)
NM_020806.5(GPHN):c.1891A>G (p.Arg631Gly) rs2153717725
NM_020806.5(GPHN):c.1906C>T (p.Pro636Ser)
NM_020806.5(GPHN):c.1910+6A>C
NM_020806.5(GPHN):c.1918ACA[1] (p.Thr641del)
NM_020806.5(GPHN):c.1924T>A (p.Phe642Ile) rs2082204409
NM_020806.5(GPHN):c.1930A>G (p.Thr644Ala) rs2082204624
NM_020806.5(GPHN):c.1946G>T (p.Gly649Val) rs1555506781
NM_020806.5(GPHN):c.201+3A>G rs2059387117
NM_020806.5(GPHN):c.202-3C>G
NM_020806.5(GPHN):c.2083T>A (p.Ser695Thr)
NM_020806.5(GPHN):c.2092G>A (p.Val698Ile)
NM_020806.5(GPHN):c.20T>C (p.Ile7Thr)
NM_020806.5(GPHN):c.20T>G (p.Ile7Ser)
NM_020806.5(GPHN):c.2107C>T (p.Arg703Cys)
NM_020806.5(GPHN):c.2108G>A (p.Arg703His)
NM_020806.5(GPHN):c.2122C>T (p.Arg708Trp)
NM_020806.5(GPHN):c.2123G>A (p.Arg708Gln) rs867353439
NM_020806.5(GPHN):c.212T>A (p.Ile71Lys) rs2153492960
NM_020806.5(GPHN):c.2152C>T (p.Pro718Ser)
NM_020806.5(GPHN):c.215A>G (p.Asp72Gly)
NM_020806.5(GPHN):c.2162G>T (p.Trp721Leu)
NM_020806.5(GPHN):c.2176G>A (p.Gly726Ser) rs2083216874
NM_020806.5(GPHN):c.2177-8C>A rs2140211473
NM_020806.5(GPHN):c.2185A>G (p.Met729Val) rs2140211629
NM_020806.5(GPHN):c.2195G>A (p.Arg732His)
NM_020806.5(GPHN):c.2206A>G (p.Met736Val)
NM_020806.5(GPHN):c.2209C>G (p.Arg737Gly) rs1484644467
NM_020806.5(GPHN):c.2226G>T (p.Leu742Phe) rs1567459862
NM_020806.5(GPHN):c.2261A>C (p.Glu754Ala)
NM_020806.5(GPHN):c.2275G>A (p.Glu759Lys) rs1158733278
NM_020806.5(GPHN):c.2302C>T (p.Arg768Trp)
NM_020806.5(GPHN):c.2303G>A (p.Arg768Gln)
NM_020806.5(GPHN):c.238A>C (p.Asn80His) rs2153492969
NM_020806.5(GPHN):c.262A>C (p.Thr88Pro) rs2153492975
NM_020806.5(GPHN):c.26C>A (p.Thr9Asn)
NM_020806.5(GPHN):c.274C>G (p.Pro92Ala)
NM_020806.5(GPHN):c.274C>T (p.Pro92Ser)
NM_020806.5(GPHN):c.294+5G>A rs2061324352
NM_020806.5(GPHN):c.315A>T (p.Glu105Asp)
NM_020806.5(GPHN):c.325C>A (p.Pro109Thr) rs2063851742
NM_020806.5(GPHN):c.343A>G (p.Met115Val)
NM_020806.5(GPHN):c.347T>A (p.Leu116Gln)
NM_020806.5(GPHN):c.353G>A (p.Gly118Glu)
NM_020806.5(GPHN):c.361A>G (p.Asn121Asp)
NM_020806.5(GPHN):c.380T>C (p.Met127Thr)
NM_020806.5(GPHN):c.389+6A>G rs2063855339
NM_020806.5(GPHN):c.390G>A (p.Arg130=)
NM_020806.5(GPHN):c.394G>C (p.Val132Leu) rs775387309
NM_020806.5(GPHN):c.412A>G (p.Lys138Glu)
NM_020806.5(GPHN):c.413A>G (p.Lys138Arg) rs1337821246
NM_020806.5(GPHN):c.422T>C (p.Ile141Thr) rs2153558082
NM_020806.5(GPHN):c.42A>C (p.Gln14His)
NM_020806.5(GPHN):c.501C>G (p.Asp167Glu)
NM_020806.5(GPHN):c.508C>T (p.Arg170Cys) rs768057286
NM_020806.5(GPHN):c.518T>A (p.Ile173Asn)
NM_020806.5(GPHN):c.518T>C (p.Ile173Thr)
NM_020806.5(GPHN):c.541G>A (p.Asp181Asn)
NM_020806.5(GPHN):c.565C>T (p.Pro189Ser)
NM_020806.5(GPHN):c.586C>A (p.Pro196Thr)
NM_020806.5(GPHN):c.593C>T (p.Thr198Ile)
NM_020806.5(GPHN):c.596C>T (p.Thr199Ile)
NM_020806.5(GPHN):c.601C>T (p.Pro201Ser)
NM_020806.5(GPHN):c.635G>A (p.Cys212Tyr)
NM_020806.5(GPHN):c.639GGAAGA[1] (p.Glu217_Glu218del)
NM_020806.5(GPHN):c.64+3A>G
NM_020806.5(GPHN):c.64+6C>A rs750672147
NM_020806.5(GPHN):c.64+6C>G rs750672147
NM_020806.5(GPHN):c.64+6C>T
NM_020806.5(GPHN):c.667G>A (p.Gly223Ser)
NM_020806.5(GPHN):c.68G>C (p.Ser23Thr) rs1490435764
NM_020806.5(GPHN):c.692C>G (p.Ser231Cys) rs2066293371
NM_020806.5(GPHN):c.715G>C (p.Ala239Pro) rs751089463
NM_020806.5(GPHN):c.718A>G (p.Ile240Val)
NM_020806.5(GPHN):c.728A>G (p.Lys243Arg) rs2153561553
NM_020806.5(GPHN):c.730-10T>A
NM_020806.5(GPHN):c.730-10T>C
NM_020806.5(GPHN):c.730-18T>C
NM_020806.5(GPHN):c.730-5A>G
NM_020806.5(GPHN):c.730-7G>T
NM_020806.5(GPHN):c.732G>A (p.Lys244=)
NM_020806.5(GPHN):c.734A>C (p.His245Pro)
NM_020806.5(GPHN):c.741C>G (p.Phe247Leu)
NM_020806.5(GPHN):c.749G>T (p.Ser250Ile) rs1402811799
NM_020806.5(GPHN):c.751C>T (p.Pro251Ser)
NM_020806.5(GPHN):c.760G>A (p.Val254Ile)
NM_020806.5(GPHN):c.763A>G (p.Met255Val)
NM_020806.5(GPHN):c.767C>T (p.Ala256Val) rs748108654
NM_020806.5(GPHN):c.772G>A (p.Gly258Ser)
NM_020806.5(GPHN):c.772G>T (p.Gly258Cys)
NM_020806.5(GPHN):c.784A>G (p.Ile262Val)
NM_020806.5(GPHN):c.796A>T (p.Ile266Phe) rs199511542
NM_020806.5(GPHN):c.805T>C (p.Ser269Pro)
NM_020806.5(GPHN):c.811C>G (p.His271Asp)
NM_020806.5(GPHN):c.811C>T (p.His271Tyr)
NM_020806.5(GPHN):c.818C>G (p.Thr273Arg)
NM_020806.5(GPHN):c.82A>G (p.Arg28Gly)
NM_020806.5(GPHN):c.83G>A (p.Arg28Lys)
NM_020806.5(GPHN):c.844A>G (p.Ile282Val)
NM_020806.5(GPHN):c.857T>G (p.Val286Gly) rs988238172
NM_020806.5(GPHN):c.865C>T (p.Leu289Phe)
NM_020806.5(GPHN):c.872G>A (p.Arg291Gln)
NM_020806.5(GPHN):c.884C>T (p.Ser295Phe) rs767514370
NM_020806.5(GPHN):c.886C>T (p.Leu296Phe)
NM_020806.5(GPHN):c.908C>T (p.Ser303Leu) rs1064796317
NM_020806.5(GPHN):c.913C>G (p.Arg305Gly)
NM_020806.5(GPHN):c.91G>A (p.Ala31Thr)
NM_020806.5(GPHN):c.922G>C (p.Ala308Pro) rs2069243517
NM_020806.5(GPHN):c.931C>T (p.Arg311Cys) rs779545541
NM_020806.5(GPHN):c.941C>T (p.Thr314Ile) rs2069244587
NM_020806.5(GPHN):c.963A>G (p.Lys321=)
NM_020806.5(GPHN):c.977G>A (p.Cys326Tyr)
NM_020806.5(GPHN):c.983G>A (p.Ser328Asn)
NM_020806.5(GPHN):c.988G>C (p.Glu330Gln)

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