ClinVar Miner

List of variants reported as uncertain significance for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 297
Download table as spreadsheet
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.1987T>C (p.Ser663Pro) rs762085852 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.1976-3C>T rs374685366 0.00001
NM_020806.5(GPHN):c.1977G>T (p.Gly659=) rs777015801 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.(?_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.(?_67555680)_(67647654_?)dup
NC_000014.8:g.(?_67626112)_(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.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.1984G>T (p.Val662Leu)
NM_020806.5(GPHN):c.1996G>T (p.Val666Phe)
NM_020806.5(GPHN):c.201+3A>G rs2059387117
NM_020806.5(GPHN):c.202-3C>G
NM_020806.5(GPHN):c.2054C>G (p.Pro685Arg)
NM_020806.5(GPHN):c.2056C>T (p.Arg686Trp)
NM_020806.5(GPHN):c.2057G>A (p.Arg686Gln)
NM_020806.5(GPHN):c.2083T>A (p.Ser695Thr)
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)

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.