ClinVar Miner

List of variants in gene ACSF3 reported as likely benign for Combined malonic and methylmalonic acidemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 419
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.823-4G>C rs558325262 0.00067
NM_001243279.3(ACSF3):c.1614-10G>C rs370941606 0.00056
NM_001243279.3(ACSF3):c.1614-6C>T rs368789945 0.00046
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=) rs780294227 0.00043
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) rs375374971 0.00031
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=) rs146779456 0.00030
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=) rs147718091 0.00029
NM_001243279.3(ACSF3):c.327C>T (p.Val109=) rs141517318 0.00027
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782 0.00025
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659 0.00023
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659 0.00021
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960 0.00019
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212 0.00019
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828 0.00018
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471 0.00017
NM_001243279.3(ACSF3):c.387T>C (p.His129=) rs150050697 0.00016
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002 0.00015
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814 0.00015
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=) rs34972688 0.00014
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn) rs142092069 0.00014
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg) rs200971130 0.00014
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745 0.00014
NM_001243279.3(ACSF3):c.1502-18C>G rs759372180 0.00012
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu) rs145470870 0.00012
NM_001243279.3(ACSF3):c.667-14C>T rs375555298 0.00012
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081 0.00012
NM_001243279.3(ACSF3):c.72G>A (p.Ala24=) rs752720474 0.00012
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr) rs189568082 0.00011
NM_001243279.3(ACSF3):c.561C>T (p.Val187=) rs113731967 0.00011
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) rs749994320 0.00010
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=) rs756300619 0.00010
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=) rs560101290 0.00008
NM_001243279.3(ACSF3):c.1502-13C>T rs755143692 0.00007
NM_001243279.3(ACSF3):c.1613+18G>A rs202213476 0.00007
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=) rs746564011 0.00006
NM_001243279.3(ACSF3):c.720C>T (p.His240=) rs778493922 0.00006
NM_001243279.3(ACSF3):c.822+12dup rs753199859 0.00006
NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=) rs777928520 0.00005
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=) rs368192538 0.00005
NM_001243279.3(ACSF3):c.666+16C>T rs367932532 0.00005
NM_001243279.3(ACSF3):c.666+9C>T rs767663198 0.00005
NM_001243279.3(ACSF3):c.708C>T (p.Asp236=) rs550622194 0.00005
NM_001243279.3(ACSF3):c.823-5C>T rs192714121 0.00005
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269 0.00005
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747 0.00004
NM_001243279.3(ACSF3):c.1613+17C>T rs370053000 0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800 0.00004
NM_001243279.3(ACSF3):c.759G>A (p.Ala253=) rs765643653 0.00004
NM_001243279.3(ACSF3):c.1127-14C>A rs774756903 0.00003
NM_001243279.3(ACSF3):c.1127-9C>T rs536593488 0.00003
NM_001243279.3(ACSF3):c.1240-17T>C rs538654192 0.00003
NM_001243279.3(ACSF3):c.1501+11G>A rs770771724 0.00003
NM_001243279.3(ACSF3):c.1502-5C>T rs577763495 0.00003
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216 0.00003
NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=) rs139813770 0.00003
NM_001243279.3(ACSF3):c.1614-19G>A rs1217575327 0.00003
NM_001243279.3(ACSF3):c.171C>T (p.Ile57=) rs147044602 0.00003
NM_001243279.3(ACSF3):c.18G>A (p.Val6=) rs375071176 0.00003
NM_001243279.3(ACSF3):c.294C>G (p.Val98=) rs1439239345 0.00003
NM_001243279.3(ACSF3):c.321C>T (p.Ser107=) rs901932797 0.00003
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) rs182147718 0.00003
NM_001243279.3(ACSF3):c.45C>G (p.Ala15=) rs771481057 0.00003
NM_001243279.3(ACSF3):c.474G>A (p.Pro158=) rs757199694 0.00003
NM_001243279.3(ACSF3):c.558G>A (p.Pro186=) rs756599875 0.00003
NM_001243279.3(ACSF3):c.667-11G>A rs1342029414 0.00003
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=) rs751461445 0.00003
NM_001243279.3(ACSF3):c.810C>T (p.Phe270=) rs143501853 0.00003
NM_001243279.3(ACSF3):c.1127-18G>A rs372361420 0.00002
NM_001243279.3(ACSF3):c.1203C>T (p.Tyr401=) rs776003939 0.00002
NM_001243279.3(ACSF3):c.1239+13G>A rs776116035 0.00002
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=) rs150322170 0.00002
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=) rs761654873 0.00002
NM_001243279.3(ACSF3):c.1635G>A (p.Ala545=) rs1015935500 0.00002
NM_001243279.3(ACSF3):c.1644G>A (p.Ser548=) rs746019334 0.00002
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=) rs747338200 0.00002
NM_001243279.3(ACSF3):c.1725C>T (p.Pro575=) rs373741441 0.00002
NM_001243279.3(ACSF3):c.366A>G (p.Ala122=) rs749371364 0.00002
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065 0.00002
NM_001243279.3(ACSF3):c.645G>A (p.Thr215=) rs772996642 0.00002
NM_001243279.3(ACSF3):c.666+17G>A rs757696220 0.00002
NM_001243279.3(ACSF3):c.667-7C>T rs770578916 0.00002
NM_001243279.3(ACSF3):c.912C>T (p.Tyr304=) rs753810945 0.00002
NM_001243279.3(ACSF3):c.105C>T (p.Ala35=) rs779450250 0.00001
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953 0.00001
NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu) rs747598756 0.00001
NM_001243279.3(ACSF3):c.1212C>T (p.His404=) rs750140114 0.00001
NM_001243279.3(ACSF3):c.1215A>G (p.Ala405=) rs766100388 0.00001
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=) rs1047268029 0.00001
NM_001243279.3(ACSF3):c.1239+20G>C rs1284590892 0.00001
NM_001243279.3(ACSF3):c.1239+9C>G rs376238513 0.00001
NM_001243279.3(ACSF3):c.1240-18G>A rs752037142 0.00001
NM_001243279.3(ACSF3):c.1240-20A>G rs750688940 0.00001
NM_001243279.3(ACSF3):c.1240-7T>G rs1909681300 0.00001
NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=) rs3743984 0.00001
NM_001243279.3(ACSF3):c.12T>C (p.His4=) rs1210564027 0.00001
NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=) rs1321315792 0.00001
NM_001243279.3(ACSF3):c.1366+11G>C rs762991611 0.00001
NM_001243279.3(ACSF3):c.1366+17T>C rs766676473 0.00001
NM_001243279.3(ACSF3):c.1366+8C>T rs773327286 0.00001
NM_001243279.3(ACSF3):c.1367-11C>T rs770165483 0.00001
NM_001243279.3(ACSF3):c.1367-8T>A rs1281358829 0.00001
NM_001243279.3(ACSF3):c.1380G>T (p.Val460=) rs554032555 0.00001
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=) rs200661983 0.00001
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=) rs1451312853 0.00001
NM_001243279.3(ACSF3):c.1501+10C>T rs375729407 0.00001
NM_001243279.3(ACSF3):c.1501+18G>A rs1295338073 0.00001
NM_001243279.3(ACSF3):c.1501+20C>T rs368217690 0.00001
NM_001243279.3(ACSF3):c.1502-10C>T rs573043890 0.00001
NM_001243279.3(ACSF3):c.1502-20A>G rs201055955 0.00001
NM_001243279.3(ACSF3):c.1502-8A>G rs760700508 0.00001
NM_001243279.3(ACSF3):c.1512G>A (p.Val504=) rs1912859667 0.00001
NM_001243279.3(ACSF3):c.1560G>C (p.Val520=) rs765469862 0.00001
NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=) rs753356664 0.00001
NM_001243279.3(ACSF3):c.1614-8C>G rs375091095 0.00001
NM_001243279.3(ACSF3):c.1617T>C (p.Asn539=) rs777157827 0.00001
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=) rs149803422 0.00001
NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=) rs757338614 0.00001
NM_001243279.3(ACSF3):c.1638G>A (p.Val546=) rs1914447521 0.00001
NM_001243279.3(ACSF3):c.1656G>A (p.Leu552=) rs1025781878 0.00001
NM_001243279.3(ACSF3):c.1722C>T (p.His574=) rs757130082 0.00001
NM_001243279.3(ACSF3):c.189C>T (p.His63=) rs562260243 0.00001
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=) rs1259149379 0.00001
NM_001243279.3(ACSF3):c.261G>C (p.Gly87=) rs779919537 0.00001
NM_001243279.3(ACSF3):c.267C>T (p.Val89=) rs746883692 0.00001
NM_001243279.3(ACSF3):c.324C>T (p.Tyr108=) rs763021932 0.00001
NM_001243279.3(ACSF3):c.363G>A (p.Val121=) rs777642279 0.00001
NM_001243279.3(ACSF3):c.36G>T (p.Leu12=) rs1278089561 0.00001
NM_001243279.3(ACSF3):c.384G>A (p.Lys128=) rs541662926 0.00001
NM_001243279.3(ACSF3):c.393G>A (p.Ala131=) rs905316715 0.00001
NM_001243279.3(ACSF3):c.417C>T (p.Cys139=) rs775755554 0.00001
NM_001243279.3(ACSF3):c.465C>T (p.Leu155=) rs1377484799 0.00001
NM_001243279.3(ACSF3):c.498G>A (p.Pro166=) rs748625786 0.00001
NM_001243279.3(ACSF3):c.507G>A (p.Pro169=) rs775166866 0.00001
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=) rs755163107 0.00001
NM_001243279.3(ACSF3):c.555C>T (p.Val185=) rs1260446910 0.00001
NM_001243279.3(ACSF3):c.588C>T (p.Gly196=) rs373441358 0.00001
NM_001243279.3(ACSF3):c.609T>C (p.Ser203=) rs1166537408 0.00001
NM_001243279.3(ACSF3):c.618G>A (p.Thr206=) rs753012038 0.00001
NM_001243279.3(ACSF3):c.648C>T (p.His216=) rs377553361 0.00001
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=) rs1374928980 0.00001
NM_001243279.3(ACSF3):c.666+19C>T rs976667680 0.00001
NM_001243279.3(ACSF3):c.667-6C>G rs2543537770 0.00001
NM_001243279.3(ACSF3):c.678G>A (p.Leu226=) rs1336029211 0.00001
NM_001243279.3(ACSF3):c.693A>G (p.Ala231=) rs750797204 0.00001
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=) rs766852572 0.00001
NM_001243279.3(ACSF3):c.738C>T (p.His246=) rs112722289 0.00001
NM_001243279.3(ACSF3):c.741C>A (p.Val247=) rs773357766 0.00001
NM_001243279.3(ACSF3):c.760C>T (p.Leu254=) rs764919377 0.00001
NM_001243279.3(ACSF3):c.765C>G (p.Leu255=) rs750139721 0.00001
NM_001243279.3(ACSF3):c.816T>G (p.Pro272=) rs1321795303 0.00001
NM_001243279.3(ACSF3):c.822+10G>A rs771232327 0.00001
NM_001243279.3(ACSF3):c.822+16G>C rs768052017 0.00001
NM_001243279.3(ACSF3):c.858G>T (p.Arg286=) rs1378884062 0.00001
NM_001243279.3(ACSF3):c.861C>T (p.Ile287=) rs777328549 0.00001
NM_001243279.3(ACSF3):c.876A>G (p.Ala292=) rs2543607293 0.00001
NM_001243279.3(ACSF3):c.885A>G (p.Thr295=) rs1482794101 0.00001
NM_001243279.3(ACSF3):c.918G>A (p.Arg306=) rs942841837 0.00001
NM_001243279.3(ACSF3):c.957A>C (p.Ala319=) rs1165098721 0.00001
NM_001243279.3(ACSF3):c.108A>G (p.Pro36=) rs746334624
NM_001243279.3(ACSF3):c.1127-12C>G rs377318017
NM_001243279.3(ACSF3):c.1127-12C>T rs377318017
NM_001243279.3(ACSF3):c.1127-14C>G rs774756903
NM_001243279.3(ACSF3):c.1127-4G>A rs1327850217
NM_001243279.3(ACSF3):c.1127-7C>A rs761564953
NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=) rs138395741
NM_001243279.3(ACSF3):c.1144C>T (p.Leu382=) rs1906458298
NM_001243279.3(ACSF3):c.1155A>C (p.Val385=) rs2543677910
NM_001243279.3(ACSF3):c.1155A>G (p.Val385=) rs2543677910
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=) rs2151478873
NM_001243279.3(ACSF3):c.117C>T (p.Arg39=) rs2151405382
NM_001243279.3(ACSF3):c.1188G>A (p.Arg396=) rs1378994162
NM_001243279.3(ACSF3):c.1194C>T (p.Ala398=) rs371890371
NM_001243279.3(ACSF3):c.1206C>T (p.Thr402=) rs2543678313
NM_001243279.3(ACSF3):c.1209C>A (p.Ile403=) rs1906478952
NM_001243279.3(ACSF3):c.1209C>T (p.Ile403=) rs1906478952
NM_001243279.3(ACSF3):c.120G>C (p.Ser40=)
NM_001243279.3(ACSF3):c.120G>T (p.Ser40=) rs34972688
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=) rs781247397
NM_001243279.3(ACSF3):c.1230G>A (p.Arg410=) rs2151479090
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=) rs2151479113
NM_001243279.3(ACSF3):c.1239+10T>C rs2151479176
NM_001243279.3(ACSF3):c.1239+11C>A rs1307911970
NM_001243279.3(ACSF3):c.1239+11C>G rs1307911970
NM_001243279.3(ACSF3):c.1239+14C>T rs1597987035
NM_001243279.3(ACSF3):c.1239+19G>A rs2543678814
NM_001243279.3(ACSF3):c.1239+7C>T rs1906490350
NM_001243279.3(ACSF3):c.1239+8A>T rs746314037
NM_001243279.3(ACSF3):c.123C>T (p.Asp41=) rs901883302
NM_001243279.3(ACSF3):c.1240-11A>C rs2543769592
NM_001243279.3(ACSF3):c.1240-15C>G rs2543769538
NM_001243279.3(ACSF3):c.1240-19T>C rs758641886
NM_001243279.3(ACSF3):c.1240-6C>T rs2543769662
NM_001243279.3(ACSF3):c.1240-8C>T rs1598040505
NM_001243279.3(ACSF3):c.1245C>A (p.Thr415=) rs374578722
NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=) rs3743984
NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=) rs760524726
NM_001243279.3(ACSF3):c.1260A>G (p.Glu420=) rs2151520849
NM_001243279.3(ACSF3):c.1263G>A (p.Lys421=) rs768562298
NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=) rs1237151757
NM_001243279.3(ACSF3):c.1296G>C (p.Val432=) rs2543770037
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=) rs2151521008
NM_001243279.3(ACSF3):c.1305A>G (p.Glu435=) rs375414491
NM_001243279.3(ACSF3):c.1320A>G (p.Pro440=) rs998246075
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=) rs1444580425
NM_001243279.3(ACSF3):c.1345C>T (p.Leu449=) rs2151521187
NM_001243279.3(ACSF3):c.1353C>G (p.Gly451=) rs2543770428
NM_001243279.3(ACSF3):c.135G>A (p.Pro45=) rs775551806
NM_001243279.3(ACSF3):c.135G>C (p.Pro45=) rs775551806
NM_001243279.3(ACSF3):c.1366+11_1366+16del rs2543770553
NM_001243279.3(ACSF3):c.1366+15C>T rs2543770588
NM_001243279.3(ACSF3):c.1366+16A>G rs1909716571
NM_001243279.3(ACSF3):c.1366+9C>G rs2151521275
NM_001243279.3(ACSF3):c.1366+9C>T rs2151521275
NM_001243279.3(ACSF3):c.1367-13C>A
NM_001243279.3(ACSF3):c.1367-13C>T rs140859425
NM_001243279.3(ACSF3):c.1367-15G>T rs2543860851
NM_001243279.3(ACSF3):c.1367-18A>G
NM_001243279.3(ACSF3):c.1367-36_1367-7del rs2151562216
NM_001243279.3(ACSF3):c.1367-4T>A rs2151562350
NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=) rs2151562365
NM_001243279.3(ACSF3):c.1368G>C (p.Gly456=) rs2151562365
NM_001243279.3(ACSF3):c.138G>A (p.Val46=) rs1597887201
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1407A>G (p.Arg469=) rs1912703262
NM_001243279.3(ACSF3):c.1410C>A (p.Gly470=) rs1912704218
NM_001243279.3(ACSF3):c.1410C>G (p.Gly470=) rs1912704218
NM_001243279.3(ACSF3):c.1410C>T (p.Gly470=) rs1912704218
NM_001243279.3(ACSF3):c.1413G>A (p.Arg471=) rs2543861353
NM_001243279.3(ACSF3):c.1419A>C (p.Ser473=) rs1912706484
NM_001243279.3(ACSF3):c.1419A>G (p.Ser473=) rs1912706484
NM_001243279.3(ACSF3):c.141C>T (p.Phe47=) rs2151405540
NM_001243279.3(ACSF3):c.1425C>T (p.Asp475=) rs2151562576
NM_001243279.3(ACSF3):c.1431C>T (p.Ile477=) rs1912708664
NM_001243279.3(ACSF3):c.1437T>C (p.Thr479=)
NM_001243279.3(ACSF3):c.1437T>G (p.Thr479=) rs2151562625
NM_001243279.3(ACSF3):c.1446C>T (p.Tyr482=) rs867782575
NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=) rs2151562665
NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=) rs377487769
NM_001243279.3(ACSF3):c.1458C>T (p.Ala486=) rs2543861642
NM_001243279.3(ACSF3):c.1459C>T (p.Leu487=) rs2543861654
NM_001243279.3(ACSF3):c.1467G>A (p.Val489=) rs115776284
NM_001243279.3(ACSF3):c.1476C>T (p.His492=) rs1348371629
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=) rs2151405575
NM_001243279.3(ACSF3):c.1482G>C (p.Leu494=) rs2543861847
NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=) rs2151562831
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=) rs2151562831
NM_001243279.3(ACSF3):c.1501+12G>A rs1349142980
NM_001243279.3(ACSF3):c.1502-6C>A rs374673132
NM_001243279.3(ACSF3):c.1502-8A>C
NM_001243279.3(ACSF3):c.151C>T (p.Leu51=) rs1567683520
NM_001243279.3(ACSF3):c.1524G>C (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1524G>T (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=) rs1012271385
NM_001243279.3(ACSF3):c.1542G>A (p.Gln514=) rs746953848
NM_001243279.3(ACSF3):c.1545G>T (p.Arg515=) rs2543867012
NM_001243279.3(ACSF3):c.1554T>G (p.Ala518=) rs2543867061
NM_001243279.3(ACSF3):c.1563C>A (p.Thr521=) rs2543867166
NM_001243279.3(ACSF3):c.156C>G (p.Ala52=) rs746564011
NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=) rs778486871
NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=) rs778486871
NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=) rs1912883419
NM_001243279.3(ACSF3):c.1599C>T (p.Leu533=) rs2543867436
NM_001243279.3(ACSF3):c.159T>C (p.Phe53=)
NM_001243279.3(ACSF3):c.1611C>T (p.Ala537=) rs1342315943
NM_001243279.3(ACSF3):c.1613+20G>T rs2543867927
NM_001243279.3(ACSF3):c.1613+7C>T rs1179755069
NM_001243279.3(ACSF3):c.1613+9G>T rs974191447
NM_001243279.3(ACSF3):c.1614-16G>A rs1235757210
NM_001243279.3(ACSF3):c.1614-7T>C rs2543916557
NM_001243279.3(ACSF3):c.1614-8C>T rs375091095
NM_001243279.3(ACSF3):c.1629G>T (p.Pro543=) rs146779456
NM_001243279.3(ACSF3):c.162G>A (p.Gly54=) rs2543520211
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=) rs1597281839
NM_001243279.3(ACSF3):c.1654C>T (p.Leu552=) rs2543916913
NM_001243279.3(ACSF3):c.1656G>C (p.Leu552=) rs1025781878
NM_001243279.3(ACSF3):c.1665G>A (p.Glu555=) rs1245847525
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=) rs767036317
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=) rs2151586215
NM_001243279.3(ACSF3):c.1704G>T (p.Ala568=) rs539500659
NM_001243279.3(ACSF3):c.1707C>A (p.Leu569=) rs763984193
NM_001243279.3(ACSF3):c.1707C>T (p.Leu569=) rs763984193
NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=) rs753754672
NM_001243279.3(ACSF3):c.1716C>T (p.His572=) rs2543917400
NM_001243279.3(ACSF3):c.1719C>T (p.Phe573=) rs1914461577
NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=) rs1914464370
NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=) rs2151586302
NM_001243279.3(ACSF3):c.177G>A (p.Leu59=) rs1975213194
NM_001243279.3(ACSF3):c.192C>T (p.Gly64=) rs770572252
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=) rs1405537973
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=) rs1975219207
NM_001243279.3(ACSF3):c.231C>T (p.Arg77=) rs1278084279
NM_001243279.3(ACSF3):c.237C>T (p.Ser79=) rs2151406106
NM_001243279.3(ACSF3):c.24C>G (p.Thr8=) rs2543519058
NM_001243279.3(ACSF3):c.24C>T (p.Thr8=)
NM_001243279.3(ACSF3):c.252G>A (p.Arg84=) rs1281880111
NM_001243279.3(ACSF3):c.255C>G (p.Leu85=) rs2543520998
NM_001243279.3(ACSF3):c.255C>T (p.Leu85=) rs2543520998
NM_001243279.3(ACSF3):c.27C>T (p.Phe9=) rs2543519066
NM_001243279.3(ACSF3):c.282G>A (p.Arg94=) rs2151406487
NM_001243279.3(ACSF3):c.294C>T (p.Val98=) rs1439239345
NM_001243279.3(ACSF3):c.297C>A (p.Ser99=) rs59213357
NM_001243279.3(ACSF3):c.303A>G (p.Leu101=) rs1467035615
NM_001243279.3(ACSF3):c.333C>G (p.Ala111=) rs1267933456
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=) rs1267933456
NM_001243279.3(ACSF3):c.33C>G (p.Arg11=) rs1386954162
NM_001243279.3(ACSF3):c.33C>T (p.Arg11=) rs1386954162
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=) rs1446396475
NM_001243279.3(ACSF3):c.369C>G (p.Val123=) rs6500529
NM_001243279.3(ACSF3):c.390C>G (p.Pro130=) rs368192538
NM_001243279.3(ACSF3):c.396C>A (p.Ala132=) rs1160790342
NM_001243279.3(ACSF3):c.399G>A (p.Gln133=) rs370968781
NM_001243279.3(ACSF3):c.423C>G (p.Ser141=) rs2543522740
NM_001243279.3(ACSF3):c.435G>A (p.Val145=) rs759185741
NM_001243279.3(ACSF3):c.438C>T (p.Val146=) rs1381436509
NM_001243279.3(ACSF3):c.444C>T (p.Ala148=) rs1373108224
NM_001243279.3(ACSF3):c.453G>A (p.Glu151=) rs1975267890
NM_001243279.3(ACSF3):c.456C>T (p.Tyr152=) rs147899198
NM_001243279.3(ACSF3):c.45C>T (p.Ala15=) rs771481057
NM_001243279.3(ACSF3):c.468G>A (p.Leu156=) rs2543523086
NM_001243279.3(ACSF3):c.474G>C (p.Pro158=) rs757199694
NM_001243279.3(ACSF3):c.474G>T (p.Pro158=) rs757199694
NM_001243279.3(ACSF3):c.477G>C (p.Val159=) rs1475922401
NM_001243279.3(ACSF3):c.481A>C (p.Arg161=) rs758530787
NM_001243279.3(ACSF3):c.486G>A (p.Lys162=) rs2151408219
NM_001243279.3(ACSF3):c.495C>T (p.Val165=)
NM_001243279.3(ACSF3):c.498G>C (p.Pro166=) rs748625786
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=) rs748625786
NM_001243279.3(ACSF3):c.501G>A (p.Leu167=) rs770424587
NM_001243279.3(ACSF3):c.501G>T (p.Leu167=)
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=) rs1403364770
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=) rs866824182
NM_001243279.3(ACSF3):c.549A>G (p.Ala183=) rs2151408822
NM_001243279.3(ACSF3):c.54C>T (p.Ser18=) rs2151405049
NM_001243279.3(ACSF3):c.555C>G (p.Val185=) rs1260446910
NM_001243279.3(ACSF3):c.558G>C (p.Pro186=) rs756599875
NM_001243279.3(ACSF3):c.573A>G (p.Gly191=) rs1307415970
NM_001243279.3(ACSF3):c.573A>T (p.Gly191=) rs1307415970
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.582C>T (p.Asn194=) rs746604282
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=) rs2151409119
NM_001243279.3(ACSF3):c.591C>T (p.Ala197=) rs1259550164
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)
NM_001243279.3(ACSF3):c.600C>T (p.Ile200=) rs147597284
NM_001243279.3(ACSF3):c.606C>T (p.Thr202=)
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=) rs1555560476
NM_001243279.3(ACSF3):c.60G>T (p.Arg20=) rs1555560476
NM_001243279.3(ACSF3):c.612G>T (p.Gly204=) rs1405817522
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.633C>G (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=) rs772996642
NM_001243279.3(ACSF3):c.657C>T (p.Ile219=) rs1176456306
NM_001243279.3(ACSF3):c.666+10G>A rs752914229
NM_001243279.3(ACSF3):c.666+10G>C rs752914229
NM_001243279.3(ACSF3):c.666+10G>T rs752914229
NM_001243279.3(ACSF3):c.666+12C>A
NM_001243279.3(ACSF3):c.666+12C>T rs756416005
NM_001243279.3(ACSF3):c.666+19C>G
NM_001243279.3(ACSF3):c.667-10T>C rs2543537665
NM_001243279.3(ACSF3):c.667-14C>G rs375555298
NM_001243279.3(ACSF3):c.667-19G>A rs560458501
NM_001243279.3(ACSF3):c.667-4G>A rs1211573607
NM_001243279.3(ACSF3):c.667-9C>A rs369865917
NM_001243279.3(ACSF3):c.667-9C>G rs369865917
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.669G>A (p.Val223=) rs772127402
NM_001243279.3(ACSF3):c.669G>T (p.Val223=) rs772127402
NM_001243279.3(ACSF3):c.66G>T (p.Ala22=) rs751461445
NM_001243279.3(ACSF3):c.699C>T (p.Thr233=) rs1597898198
NM_001243279.3(ACSF3):c.714C>T (p.Ile238=) rs756934667
NM_001243279.3(ACSF3):c.723G>A (p.Val241=) rs1597898369
NM_001243279.3(ACSF3):c.723G>T (p.Val241=) rs1597898369
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=) rs768799062
NM_001243279.3(ACSF3):c.729G>T (p.Pro243=) rs768799062
NM_001243279.3(ACSF3):c.72G>C (p.Ala24=) rs752720474
NM_001243279.3(ACSF3):c.732G>C (p.Leu244=) rs1975490271
NM_001243279.3(ACSF3):c.735C>T (p.His245=) rs1397465454
NM_001243279.3(ACSF3):c.747T>C (p.Gly249=) rs1419853894
NM_001243279.3(ACSF3):c.750G>T (p.Val250=) rs1045898328
NM_001243279.3(ACSF3):c.759G>T (p.Ala253=) rs765643653
NM_001243279.3(ACSF3):c.75A>G (p.Arg25=) rs931176162
NM_001243279.3(ACSF3):c.762G>A (p.Leu254=) rs2151416739
NM_001243279.3(ACSF3):c.765C>T (p.Leu255=) rs750139721
NM_001243279.3(ACSF3):c.771T>A (p.Pro257=) rs2543538809
NM_001243279.3(ACSF3):c.786C>A (p.Ala262=) rs2151416786
NM_001243279.3(ACSF3):c.789C>G (p.Thr263=) rs1975498351
NM_001243279.3(ACSF3):c.792T>C (p.Cys264=) rs2151416808
NM_001243279.3(ACSF3):c.79A>C (p.Arg27=) rs1975193560
NM_001243279.3(ACSF3):c.804T>C (p.Pro268=) rs1597898947
NM_001243279.3(ACSF3):c.822+10G>C rs771232327
NM_001243279.3(ACSF3):c.822+12_822+61del rs2543539220
NM_001243279.3(ACSF3):c.822+15G>A rs1975506025
NM_001243279.3(ACSF3):c.822+17G>A
NM_001243279.3(ACSF3):c.822+9G>C
NM_001243279.3(ACSF3):c.823-17C>G
NM_001243279.3(ACSF3):c.823-18G>T rs1976744871
NM_001243279.3(ACSF3):c.823-19T>C rs1405205975
NM_001243279.3(ACSF3):c.823-4G>A rs558325262
NM_001243279.3(ACSF3):c.823-7T>A rs2543606648
NM_001243279.3(ACSF3):c.823-8C>G rs776024101
NM_001243279.3(ACSF3):c.831A>G (p.Glu277=) rs2543606968
NM_001243279.3(ACSF3):c.837C>T (p.Phe279=) rs2543607022
NM_001243279.3(ACSF3):c.838T>C (p.Leu280=) rs2543607030
NM_001243279.3(ACSF3):c.846T>C (p.Ser282=) rs1597942772
NM_001243279.3(ACSF3):c.84A>G (p.Gly28=) rs2543519574
NM_001243279.3(ACSF3):c.856C>A (p.Arg286=) rs148146761
NM_001243279.3(ACSF3):c.858G>C (p.Arg286=) rs1378884062
NM_001243279.3(ACSF3):c.864T>C (p.Asn288=) rs762523304
NM_001243279.3(ACSF3):c.867C>A (p.Val289=) rs1246005897
NM_001243279.3(ACSF3):c.867C>T (p.Val289=) rs1246005897
NM_001243279.3(ACSF3):c.870T>C (p.Phe290=) rs2151444679
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=) rs2151444809
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=) rs1976764124
NM_001243279.3(ACSF3):c.906G>A (p.Glu302=) rs1976765433
NM_001243279.3(ACSF3):c.939C>T (p.Ala313=) rs770510501
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=) rs1165098721
NM_001243279.3(ACSF3):c.977+18A>G rs1976784225

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