ClinVar Miner

List of variants in gene ACSF3 studied for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 320
Download table as spreadsheet
HGVS dbSNP
ACSF3, LYS462THR AND GLY465_GLY470 DEL
NC_000016.10:g.(?_89100662)_(89154227_?)dup
NC_000016.10:g.89100703_89111915del
NC_000016.9:g.(?_89160207)_(89212467_?)del
NC_000016.9:g.(?_89167070)_(89180915_?)del
NC_000016.9:g.(?_89167070)_(89187341_?)dup
NC_000016.9:g.(?_89167111_89178323del
NC_000016.9:g.(?_89178490)_(89207694_?)del
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NC_000016.9:g.(?_89187199)_(89222264_?)del
NC_000016.9:g.(?_89199534)_(89199680_?)del
NC_000016.9:g.89178499del
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=)
NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=)
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=)
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=)
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=)
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile) rs387907120
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)
NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=)
NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=)
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)
NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=)
NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=)
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=) rs148716626
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)
NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=)
NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=)
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=) rs201792144
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met)
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=)
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=)
NM_001243279.3(ACSF3):c.1126+10C>T
NM_001243279.3(ACSF3):c.1126+1G>A
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029
NM_001243279.3(ACSF3):c.1127-4G>A
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960
NM_001243279.3(ACSF3):c.1127-7C>A
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953
NM_001243279.3(ACSF3):c.1127-9C>T
NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=) rs138395741
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=) rs138395741
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=) rs141088268
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=)
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=) rs34972688
NM_001243279.3(ACSF3):c.1212C>T (p.His404=)
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr) rs189568082
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=)
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=)
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) rs545886514
NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=)
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=)
NM_001243279.3(ACSF3):c.1239+8A>T
NM_001243279.3(ACSF3):c.1239+9C>G rs376238513
NM_001243279.3(ACSF3):c.123C>T (p.Asp41=)
NM_001243279.3(ACSF3):c.1240-8C>T rs1598040505
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747
NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=)
NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=)
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=) rs150322170
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)
NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=)
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=)
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828
NM_001243279.3(ACSF3):c.12T>C (p.His4=)
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter) rs766764090
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=)
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=)
NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=)
NM_001243279.3(ACSF3):c.135G>C (p.Pro45=)
NM_001243279.3(ACSF3):c.1366+8C>T
NM_001243279.3(ACSF3):c.1366+9C>T
NM_001243279.3(ACSF3):c.1367-13C>G rs140859425
NM_001243279.3(ACSF3):c.1367-36_1367-7del
NM_001243279.3(ACSF3):c.1367-4T>A
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336
NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=)
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=) rs761654873
NM_001243279.3(ACSF3):c.1380G>T (p.Val460=)
NM_001243279.3(ACSF3):c.138G>A (p.Val46=) rs1597887201
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=)
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg) rs200971130
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=)
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=)
NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=)
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)
NM_001243279.3(ACSF3):c.1467G>A (p.Val489=)
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=) rs115776284
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370
NM_001243279.3(ACSF3):c.1476C>T (p.His492=) rs1348371629
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=)
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=)
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)
NM_001243279.3(ACSF3):c.1501+10C>T
NM_001243279.3(ACSF3):c.1502-10C>T
NM_001243279.3(ACSF3):c.1502-11_1502-9del
NM_001243279.3(ACSF3):c.1502-18C>G rs759372180
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659
NM_001243279.3(ACSF3):c.1502-5C>T rs577763495
NM_001243279.3(ACSF3):c.1502-8A>G
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=)
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=) rs746564011
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)
NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=)
NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=)
NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=)
NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=)
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs)
NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=)
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745
NM_001243279.3(ACSF3):c.1613+9G>T
NM_001243279.3(ACSF3):c.1614-10G>C rs370941606
NM_001243279.3(ACSF3):c.1614-6C>T rs368789945
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=)
NM_001243279.3(ACSF3):c.1623_1624insCAGAT (p.Ala542fs)
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=) rs146779456
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs)
NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=)
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=) rs1597281839
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=)
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=)
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659
NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=)
NM_001243279.3(ACSF3):c.171C>T (p.Ile57=)
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)
NM_001243279.3(ACSF3):c.1722C>T (p.His574=)
NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=)
NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=)
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs)
NM_001243279.3(ACSF3):c.189C>T (p.His63=)
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=)
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=)
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=)
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=) rs560101290
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)
NM_001243279.3(ACSF3):c.267C>T (p.Val89=) rs746883692
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=) rs59213357
NM_001243279.3(ACSF3):c.305del (p.Cys102fs) rs760759040
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) rs749994320
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) rs145969050
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) rs7193255
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235
NM_001243279.3(ACSF3):c.321C>T (p.Ser107=)
NM_001243279.3(ACSF3):c.327C>T (p.Val109=) rs141517318
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=)
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=)
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) rs757905943
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) rs6500528
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) rs182147718
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) rs200703917
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) rs6500529
NM_001243279.3(ACSF3):c.369C>G (p.Val123=)
NM_001243279.3(ACSF3):c.384G>A (p.Lys128=)
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=) rs368192538
NM_001243279.3(ACSF3):c.393G>A (p.Ala131=)
NM_001243279.3(ACSF3):c.399G>A (p.Gln133=)
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)
NM_001243279.3(ACSF3):c.411C>T (p.Val137=) rs148969539
NM_001243279.3(ACSF3):c.417C>T (p.Cys139=) rs775755554
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=) rs756300619
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) rs774006659
NM_001243279.3(ACSF3):c.435G>A (p.Val145=)
NM_001243279.3(ACSF3):c.438C>T (p.Val146=) rs1381436509
NM_001243279.3(ACSF3):c.444C>T (p.Ala148=)
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter) rs752338222
NM_001243279.3(ACSF3):c.45C>G (p.Ala15=) rs771481057
NM_001243279.3(ACSF3):c.474G>A (p.Pro158=)
NM_001243279.3(ACSF3):c.474G>T (p.Pro158=)
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065
NM_001243279.3(ACSF3):c.486G>A (p.Lys162=)
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)
NM_001243279.3(ACSF3):c.498G>A (p.Pro166=)
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=)
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) rs11547019
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=)
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=)
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=)
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=)
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=)
NM_001243279.3(ACSF3):c.555C>G (p.Val185=)
NM_001243279.3(ACSF3):c.555C>T (p.Val185=)
NM_001243279.3(ACSF3):c.558G>A (p.Pro186=)
NM_001243279.3(ACSF3):c.561C>T (p.Val187=)
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=)
NM_001243279.3(ACSF3):c.588C>T (p.Gly196=) rs373441358
NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg) rs387907121
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) rs7188200
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) rs147597284
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=)
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs)
NM_001243279.3(ACSF3):c.645G>A (p.Thr215=) rs772996642
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=)
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=)
NM_001243279.3(ACSF3):c.666+10G>A
NM_001243279.3(ACSF3):c.666+9C>T rs767663198
NM_001243279.3(ACSF3):c.667-12C>T rs72817437
NM_001243279.3(ACSF3):c.667-13T>C rs139367843
NM_001243279.3(ACSF3):c.667-7C>T
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=)
NM_001243279.3(ACSF3):c.66G>T (p.Ala22=)
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081
NM_001243279.3(ACSF3):c.675del (p.Leu226fs) rs1597898076
NM_001243279.3(ACSF3):c.678G>A (p.Leu226=)
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp) rs1597898108
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=) rs766852572
NM_001243279.3(ACSF3):c.708C>T (p.Asp236=) rs550622194
NM_001243279.3(ACSF3):c.720C>T (p.His240=) rs778493922
NM_001243279.3(ACSF3):c.723G>A (p.Val241=) rs1597898369
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=)
NM_001243279.3(ACSF3):c.729G>T (p.Pro243=)
NM_001243279.3(ACSF3):c.72G>A (p.Ala24=)
NM_001243279.3(ACSF3):c.738C>T (p.His246=) rs112722289
NM_001243279.3(ACSF3):c.741C>A (p.Val247=)
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=) rs147718091
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)
NM_001243279.3(ACSF3):c.759G>A (p.Ala253=) rs765643653
NM_001243279.3(ACSF3):c.759G>T (p.Ala253=)
NM_001243279.3(ACSF3):c.75A>G (p.Arg25=)
NM_001243279.3(ACSF3):c.760C>T (p.Leu254=) rs764919377
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)
NM_001243279.3(ACSF3):c.786C>A (p.Ala262=)
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)
NM_001243279.3(ACSF3):c.816T>G (p.Pro272=)
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)
NM_001243279.3(ACSF3):c.822+10G>C
NM_001243279.3(ACSF3):c.823-26T>C rs9921293
NM_001243279.3(ACSF3):c.823-4G>A
NM_001243279.3(ACSF3):c.823-4G>C rs558325262
NM_001243279.3(ACSF3):c.823-5C>T rs192714121
NM_001243279.3(ACSF3):c.823-6T>C rs76096111
NM_001243279.3(ACSF3):c.823-8C>G
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter) rs570233664
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
NM_001243279.3(ACSF3):c.846T>C (p.Ser282=)
NM_001243279.3(ACSF3):c.852G>A (p.Thr284=) rs183159791
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=) rs780294227
NM_001243279.3(ACSF3):c.867C>T (p.Val289=)
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=)
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=)
NM_001243279.3(ACSF3):c.918G>A (p.Arg306=)
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269
NM_001243279.3(ACSF3):c.957A>C (p.Ala319=)
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=)
NM_001243279.3(ACSF3):c.978-1G>A
NM_001243279.3(ACSF3):c.978-4G>A
NM_001243279.3(ACSF3):c.978-5C>T rs767914459
NM_001243279.3(ACSF3):c.978-6G>A rs377217672
NM_001243279.3(ACSF3):c.978-6G>T
NM_001243279.3(ACSF3):c.978-7C>T rs190927208
NM_001243279.3(ACSF3):c.990A>G (p.Ser330=)
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=) rs75591977

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.