ClinVar Miner

List of variants reported as uncertain significance for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 340
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.1744G>A (p.Asp582Asn) rs760218731 0.00004
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.1268T>C (p.Ile423Thr) rs919686056 0.00003
NM_020806.5(GPHN):c.1413+3A>G rs745860575 0.00003
NM_020806.5(GPHN):c.1766A>G (p.Asn589Ser) rs903197780 0.00003
NM_020806.5(GPHN):c.1768G>T (p.Ala590Ser) rs375284004 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.601C>T (p.Pro201Ser) rs568241284 0.00003
NM_020806.5(GPHN):c.914G>A (p.Arg305His) rs778622230 0.00003
NM_020806.5(GPHN):c.1036G>A (p.Ala346Thr) rs755326051 0.00002
NM_020806.5(GPHN):c.1112C>T (p.Pro371Leu) rs749278127 0.00002
NM_020806.5(GPHN):c.157A>G (p.Ile53Val) rs745706077 0.00002
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.1987T>C (p.Ser663Pro) rs762085852 0.00002
NM_020806.5(GPHN):c.2206A>G (p.Met736Val) rs773187265 0.00002
NM_020806.5(GPHN):c.2302C>T (p.Arg768Trp) rs780146563 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.49G>A (p.Val17Ile) rs550187024 0.00002
NM_020806.5(GPHN):c.751C>T (p.Pro251Ser) rs751726828 0.00002
NM_020806.5(GPHN):c.100C>T (p.Arg34Cys) rs771584129 0.00001
NM_020806.5(GPHN):c.1046A>G (p.His349Arg) rs1251852549 0.00001
NM_020806.5(GPHN):c.1049G>A (p.Arg350His) rs748299033 0.00001
NM_020806.5(GPHN):c.1051A>G (p.Met351Val) rs1458836230 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.1130T>A (p.Ile377Asn) rs2075704662 0.00001
NM_020806.5(GPHN):c.1142G>A (p.Arg381Gln) rs200511259 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.1328G>A (p.Arg443Gln) rs745338809 0.00001
NM_020806.5(GPHN):c.1334C>T (p.Thr445Ile) rs769253787 0.00001
NM_020806.5(GPHN):c.1336A>G (p.Thr446Ala) rs776988756 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.1396A>G (p.Ile466Val) rs763215102 0.00001
NM_020806.5(GPHN):c.1413+4C>T rs759514847 0.00001
NM_020806.5(GPHN):c.1413+5G>A rs767550817 0.00001
NM_020806.5(GPHN):c.1414-14G>A rs1204105791 0.00001
NM_020806.5(GPHN):c.1466A>G (p.Asp489Gly) rs757030425 0.00001
NM_020806.5(GPHN):c.1473A>G (p.Arg491=) rs760720975 0.00001
NM_020806.5(GPHN):c.1544T>C (p.Ile515Thr) rs766027485 0.00001
NM_020806.5(GPHN):c.1575G>T (p.Glu525Asp) rs2078472198 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.1733G>A (p.Gly578Asp) rs1239144590 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.1817G>A (p.Gly606Asp) rs777861765 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.2123G>A (p.Arg708Gln) rs867353439 0.00001
NM_020806.5(GPHN):c.2303G>A (p.Arg768Gln) rs2083296158 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.518T>A (p.Ile173Asn) rs1185985395 0.00001
NM_020806.5(GPHN):c.535G>A (p.Val179Met) rs778043539 0.00001
NM_020806.5(GPHN):c.541G>A (p.Asp181Asn) rs779167485 0.00001
NM_020806.5(GPHN):c.543T>G (p.Asp181Glu) rs990423200 0.00001
NM_020806.5(GPHN):c.586C>A (p.Pro196Thr) rs768588294 0.00001
NM_020806.5(GPHN):c.592A>C (p.Thr198Pro) rs776521403 0.00001
NM_020806.5(GPHN):c.593C>T (p.Thr198Ile) rs1486234815 0.00001
NM_020806.5(GPHN):c.595A>G (p.Thr199Ala) rs970248522 0.00001
NM_020806.5(GPHN):c.596C>T (p.Thr199Ile) rs1886411694 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.718A>G (p.Ile240Val) rs2549615732 0.00001
NM_020806.5(GPHN):c.730-10T>A rs371948902 0.00001
NM_020806.5(GPHN):c.730-5A>G rs1212247375 0.00001
NM_020806.5(GPHN):c.772G>A (p.Gly258Ser) rs1458825735 0.00001
NM_020806.5(GPHN):c.779A>G (p.Gln260Arg) rs528992608 0.00001
NM_020806.5(GPHN):c.784A>G (p.Ile262Val) rs2066363210 0.00001
NM_020806.5(GPHN):c.844A>G (p.Ile282Val) rs934987371 0.00001
NM_020806.5(GPHN):c.872G>A (p.Arg291Gln) rs774716332 0.00001
NM_020806.5(GPHN):c.977G>A (p.Cys326Tyr) rs1258366704 0.00001
NM_020806.5(GPHN):c.983G>A (p.Ser328Asn) rs1423453724 0.00001
NM_020806.5(GPHN):c.988G>C (p.Glu330Gln) rs1483246386 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 rs2542612376
NM_020806.5(GPHN):c.1013G>T (p.Ser338Ile) rs2075700924
NM_020806.5(GPHN):c.101G>A (p.Arg34His)
NM_020806.5(GPHN):c.1028C>G (p.Thr343Ser) rs2542612734
NM_020806.5(GPHN):c.103A>G (p.Ser35Gly) rs2066911919
NM_020806.5(GPHN):c.1048C>T (p.Arg350Cys) rs1802147143
NM_020806.5(GPHN):c.1053G>A (p.Met351Ile) rs2542613043
NM_020806.5(GPHN):c.1067T>C (p.Leu356Pro) rs2153649195
NM_020806.5(GPHN):c.1073C>G (p.Ser358Cys) rs2542613318
NM_020806.5(GPHN):c.1082A>G (p.Lys361Arg)
NM_020806.5(GPHN):c.1092C>G (p.Ile364Met) rs1339182094
NM_020806.5(GPHN):c.1111C>T (p.Pro371Ser) rs2542613782
NM_020806.5(GPHN):c.111A>G (p.Ile37Met) rs2066912188
NM_020806.5(GPHN):c.112A>G (p.Asn38Asp) rs765706197
NM_020806.5(GPHN):c.1136A>T (p.Asn379Ile) rs2153649226
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) rs2543058736
NM_020806.5(GPHN):c.1166C>T (p.Ala389Val)
NM_020806.5(GPHN):c.1172A>G (p.Asp391Gly)
NM_020806.5(GPHN):c.1198C>T (p.Pro400Ser)
NM_020806.5(GPHN):c.1223G>T (p.Gly408Val) rs2543059971
NM_020806.5(GPHN):c.1226A>G (p.Tyr409Cys) rs2077025832
NM_020806.5(GPHN):c.1235G>A (p.Arg412Gln) rs1336840604
NM_020806.5(GPHN):c.1237+6T>C rs2543060549
NM_020806.5(GPHN):c.1238-12T>A rs2077662074
NM_020806.5(GPHN):c.1238-3_1238-2del rs1199608337
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) rs2543230584
NM_020806.5(GPHN):c.1258C>T (p.Arg420Cys) rs2543230651
NM_020806.5(GPHN):c.127G>A (p.Val43Ile) rs117256383
NM_020806.5(GPHN):c.1297A>G (p.Thr433Ala) rs777470300
NM_020806.5(GPHN):c.1300C>G (p.Gln434Glu) rs770441465
NM_020806.5(GPHN):c.131A>C (p.Gln44Pro)
NM_020806.5(GPHN):c.1326G>A (p.Met442Ile)
NM_020806.5(GPHN):c.1327C>T (p.Arg443Trp)
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.1339G>T (p.Gly447Cys)
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) rs2543380932
NM_020806.5(GPHN):c.1429G>C (p.Glu477Gln) rs2543394980
NM_020806.5(GPHN):c.143+5G>A
NM_020806.5(GPHN):c.1436G>A (p.Arg479Gln)
NM_020806.5(GPHN):c.143T>G (p.Leu48Trp) rs2548561242
NM_020806.5(GPHN):c.1444G>C (p.Val482Leu) rs1447775580
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) rs2543395116
NM_020806.5(GPHN):c.1466A>T (p.Asp489Val) rs757030425
NM_020806.5(GPHN):c.1469T>C (p.Ile490Thr) rs2543395251
NM_020806.5(GPHN):c.1469T>G (p.Ile490Ser) rs2543395251
NM_020806.5(GPHN):c.1470C>T (p.Ile490=) rs2543395273
NM_020806.5(GPHN):c.1473-5T>G rs2078467170
NM_020806.5(GPHN):c.1475C>A (p.Pro492His) rs2543402473
NM_020806.5(GPHN):c.1480G>A (p.Gly494Ser) rs776544093
NM_020806.5(GPHN):c.1481G>T (p.Gly494Val) rs2543402502
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) rs2543402730
NM_020806.5(GPHN):c.1549C>A (p.Leu517Ile) rs138042556
NM_020806.5(GPHN):c.154A>G (p.Thr52Ala) rs757170307
NM_020806.5(GPHN):c.1556C>A (p.Ala519Glu)
NM_020806.5(GPHN):c.1558A>T (p.Thr520Ser) rs749747472
NM_020806.5(GPHN):c.1589A>C (p.Lys530Thr) rs2543403084
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) rs1348944648
NM_020806.5(GPHN):c.1625A>G (p.Glu542Gly) rs2543403226
NM_020806.5(GPHN):c.1627C>T (p.Leu543=) rs2079054125
NM_020806.5(GPHN):c.1642G>C (p.Asp548His) rs2153692260
NM_020806.5(GPHN):c.1658G>A (p.Gly553Glu) rs2543524575
NM_020806.5(GPHN):c.1667G>A (p.Arg556Gln) rs1184283854
NM_020806.5(GPHN):c.1685C>G (p.Thr562Ser) rs2543525082
NM_020806.5(GPHN):c.1691T>C (p.Leu564Pro) rs2543525166
NM_020806.5(GPHN):c.1694C>G (p.Ala565Gly)
NM_020806.5(GPHN):c.170A>G (p.Lys57Arg) rs2549068259
NM_020806.5(GPHN):c.1724T>G (p.Ile575Ser)
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.1738G>A (p.Val580Ile) rs1204402891
NM_020806.5(GPHN):c.1748+3A>T
NM_020806.5(GPHN):c.1748+6T>A rs1251837007
NM_020806.5(GPHN):c.1765A>G (p.Asn589Asp) rs2080611781
NM_020806.5(GPHN):c.1769C>T (p.Ala590Val) rs2080612237
NM_020806.5(GPHN):c.1781G>T (p.Gly594Val)
NM_020806.5(GPHN):c.1789C>T (p.Arg597Cys) rs1360125120
NM_020806.5(GPHN):c.1796A>T (p.Asp599Val) rs2543888155
NM_020806.5(GPHN):c.1804A>C (p.Ile602Leu) rs756165409
NM_020806.5(GPHN):c.1805T>G (p.Ile602Ser) rs1567398072
NM_020806.5(GPHN):c.1836+4T>C
NM_020806.5(GPHN):c.1837-16_1837-11del rs2544154380
NM_020806.5(GPHN):c.1848G>T (p.Lys616Asn)
NM_020806.5(GPHN):c.1886T>G (p.Phe629Cys) rs2544155446
NM_020806.5(GPHN):c.1891A>G (p.Arg631Gly) rs2153717725
NM_020806.5(GPHN):c.1906C>T (p.Pro636Ser) rs1442065953
NM_020806.5(GPHN):c.1910+6A>C rs757400191
NM_020806.5(GPHN):c.1918ACA[1] (p.Thr641del) rs2544240572
NM_020806.5(GPHN):c.1924T>A (p.Phe642Ile) rs2082204409
NM_020806.5(GPHN):c.1928C>A (p.Ala643Glu)
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) rs2544303333
NM_020806.5(GPHN):c.1993G>T (p.Val665Leu)
NM_020806.5(GPHN):c.1996G>A (p.Val666Ile)
NM_020806.5(GPHN):c.1996G>T (p.Val666Phe) rs766402125
NM_020806.5(GPHN):c.201+3A>G rs2059387117
NM_020806.5(GPHN):c.202-3C>G rs2549283828
NM_020806.5(GPHN):c.2054C>G (p.Pro685Arg) rs867392207
NM_020806.5(GPHN):c.2056C>T (p.Arg686Trp) rs2544304967
NM_020806.5(GPHN):c.2057G>A (p.Arg686Gln) rs2544305014
NM_020806.5(GPHN):c.2083T>A (p.Ser695Thr) rs2544477973
NM_020806.5(GPHN):c.20T>C (p.Ile7Thr) rs370646151
NM_020806.5(GPHN):c.20T>G (p.Ile7Ser) rs370646151
NM_020806.5(GPHN):c.2107C>T (p.Arg703Cys) rs1252936065
NM_020806.5(GPHN):c.2108G>A (p.Arg703His) rs2544478218
NM_020806.5(GPHN):c.2122C>T (p.Arg708Trp) rs2544478340
NM_020806.5(GPHN):c.212T>A (p.Ile71Lys) rs2153492960
NM_020806.5(GPHN):c.2140dup (p.His714fs)
NM_020806.5(GPHN):c.2152C>T (p.Pro718Ser) rs984569604
NM_020806.5(GPHN):c.215A>G (p.Asp72Gly) rs974394412
NM_020806.5(GPHN):c.2162G>T (p.Trp721Leu) rs2544478657
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) rs756728918
NM_020806.5(GPHN):c.2209C>G (p.Arg737Gly) rs1484644467
NM_020806.5(GPHN):c.2210G>A (p.Arg737His)
NM_020806.5(GPHN):c.2226G>T (p.Leu742Phe) rs1567459862
NM_020806.5(GPHN):c.2231T>C (p.Met744Thr)
NM_020806.5(GPHN):c.2261A>C (p.Glu754Ala) rs2544497290
NM_020806.5(GPHN):c.2274C>T (p.Gly758=)
NM_020806.5(GPHN):c.2275G>A (p.Glu759Lys) rs1158733278
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) rs150226537
NM_020806.5(GPHN):c.274C>G (p.Pro92Ala) rs937919465
NM_020806.5(GPHN):c.274C>T (p.Pro92Ser) rs937919465
NM_020806.5(GPHN):c.294+5G>A rs2061324352
NM_020806.5(GPHN):c.315A>T (p.Glu105Asp) rs759432514
NM_020806.5(GPHN):c.325C>A (p.Pro109Thr) rs2063851742
NM_020806.5(GPHN):c.343A>G (p.Met115Val) rs2063852476
NM_020806.5(GPHN):c.347T>A (p.Leu116Gln) rs2549499041
NM_020806.5(GPHN):c.353G>A (p.Gly118Glu) rs1173184667
NM_020806.5(GPHN):c.361A>G (p.Asn121Asp) rs2549499085
NM_020806.5(GPHN):c.380T>C (p.Met127Thr) rs1233139559
NM_020806.5(GPHN):c.389+6A>G rs2063855339
NM_020806.5(GPHN):c.390G>A (p.Arg130=) rs867680060
NM_020806.5(GPHN):c.394G>C (p.Val132Leu) rs775387309
NM_020806.5(GPHN):c.412A>G (p.Lys138Glu) rs2549597707
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) rs750981506
NM_020806.5(GPHN):c.47G>A (p.Arg16His)
NM_020806.5(GPHN):c.501C>G (p.Asp167Glu) rs749859135
NM_020806.5(GPHN):c.508C>T (p.Arg170Cys) rs768057286
NM_020806.5(GPHN):c.518T>C (p.Ile173Thr) rs1185985395
NM_020806.5(GPHN):c.523A>G (p.Lys175Glu)
NM_020806.5(GPHN):c.534G>C (p.Glu178Asp)
NM_020806.5(GPHN):c.565C>T (p.Pro189Ser) rs1287767064
NM_020806.5(GPHN):c.635G>A (p.Cys212Tyr) rs2549615407
NM_020806.5(GPHN):c.639GGAAGA[1] (p.Glu217_Glu218del) rs2549615416
NM_020806.5(GPHN):c.64+3A>G rs2547721389
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 rs750672147
NM_020806.5(GPHN):c.667G>A (p.Gly223Ser) rs2549615506
NM_020806.5(GPHN):c.673G>T (p.Ala225Ser)
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.705A>G (p.Ile235Met)
NM_020806.5(GPHN):c.712G>T (p.Ala238Ser)
NM_020806.5(GPHN):c.715G>C (p.Ala239Pro) rs751089463
NM_020806.5(GPHN):c.728A>G (p.Lys243Arg) rs2153561553
NM_020806.5(GPHN):c.730-10T>C rs371948902
NM_020806.5(GPHN):c.730-18T>C rs2066358010
NM_020806.5(GPHN):c.730-19_730-18del
NM_020806.5(GPHN):c.730-7G>T rs2549619525
NM_020806.5(GPHN):c.730-8T>G
NM_020806.5(GPHN):c.732G>A (p.Lys244=) rs2549619576
NM_020806.5(GPHN):c.734A>C (p.His245Pro) rs2549619585
NM_020806.5(GPHN):c.741C>G (p.Phe247Leu) rs756588496
NM_020806.5(GPHN):c.749G>T (p.Ser250Ile) rs1402811799
NM_020806.5(GPHN):c.754G>T (p.Ala252Ser)
NM_020806.5(GPHN):c.760G>A (p.Val254Ile) rs2549619707
NM_020806.5(GPHN):c.763A>G (p.Met255Val) rs755083907
NM_020806.5(GPHN):c.767C>T (p.Ala256Val) rs748108654
NM_020806.5(GPHN):c.772G>T (p.Gly258Cys) rs1458825735
NM_020806.5(GPHN):c.791G>A (p.Gly264Asp)
NM_020806.5(GPHN):c.796A>T (p.Ile266Phe) rs199511542
NM_020806.5(GPHN):c.805T>C (p.Ser269Pro) rs2066364720
NM_020806.5(GPHN):c.811C>G (p.His271Asp) rs745440766
NM_020806.5(GPHN):c.811C>T (p.His271Tyr) rs745440766
NM_020806.5(GPHN):c.818C>G (p.Thr273Arg) rs771609374
NM_020806.5(GPHN):c.82A>G (p.Arg28Gly) rs1254755130
NM_020806.5(GPHN):c.83G>A (p.Arg28Lys) rs778183257
NM_020806.5(GPHN):c.847T>A (p.Ser283Thr)
NM_020806.5(GPHN):c.848C>A (p.Ser283Tyr)
NM_020806.5(GPHN):c.851G>A (p.Arg284His)
NM_020806.5(GPHN):c.854G>T (p.Gly285Val)
NM_020806.5(GPHN):c.857T>G (p.Val286Gly) rs988238172
NM_020806.5(GPHN):c.865C>T (p.Leu289Phe) rs1425805863
NM_020806.5(GPHN):c.884C>T (p.Ser295Phe) rs767514370
NM_020806.5(GPHN):c.886C>T (p.Leu296Phe) rs752782124
NM_020806.5(GPHN):c.908C>T (p.Ser303Leu) rs1064796317
NM_020806.5(GPHN):c.913C>G (p.Arg305Gly) rs757052160
NM_020806.5(GPHN):c.913C>T (p.Arg305Cys)
NM_020806.5(GPHN):c.91G>A (p.Ala31Thr) rs371802458
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.953C>G (p.Pro318Arg)
NM_020806.5(GPHN):c.963A>G (p.Lys321=) rs749743239

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.