ClinVar Miner

List of variants in gene AFG2A reported as uncertain significance for Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 335
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HGVS dbSNP gnomAD frequency
NM_145207.3(AFG2A):c.896G>T (p.Gly299Val) rs75871497 0.00181
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln) rs147873489 0.00058
NM_145207.3(AFG2A):c.1159C>T (p.Pro387Ser) rs201751275 0.00049
NM_145207.3(AFG2A):c.1622C>G (p.Pro541Arg) rs143957561 0.00049
NM_145207.3(AFG2A):c.637G>A (p.Asp213Asn) rs139066705 0.00045
NM_145207.3(AFG2A):c.367G>T (p.Val123Leu) rs150058325 0.00041
NM_145207.3(AFG2A):c.436G>A (p.Val146Met) rs374771569 0.00033
NM_145207.3(AFG2A):c.16A>G (p.Asn6Asp) rs751349548 0.00017
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu) rs560475969 0.00016
NM_145207.3(AFG2A):c.2074A>G (p.Ile692Val) rs370427695 0.00016
NM_145207.3(AFG2A):c.2081G>A (p.Gly694Glu) rs141576468 0.00013
NM_145207.3(AFG2A):c.183A>C (p.Lys61Asn) rs753970347 0.00008
NM_145207.3(AFG2A):c.1502G>A (p.Arg501His) rs148135198 0.00007
NM_145207.3(AFG2A):c.1978C>T (p.Pro660Ser) rs750430267 0.00007
NM_145207.3(AFG2A):c.277G>A (p.Gly93Arg) rs758521022 0.00007
NM_145207.3(AFG2A):c.1100A>T (p.Glu367Val) rs972337890 0.00006
NM_145207.3(AFG2A):c.1729C>T (p.Arg577Trp) rs201782536 0.00006
NM_145207.3(AFG2A):c.226A>C (p.Lys76Gln) rs938471150 0.00006
NM_145207.3(AFG2A):c.694T>C (p.Ser232Pro) rs146442339 0.00006
NM_145207.3(AFG2A):c.1977G>C (p.Gln659His) rs938697793 0.00005
NM_145207.3(AFG2A):c.889A>G (p.Arg297Gly) rs568838818 0.00005
NM_145207.3(AFG2A):c.1411A>G (p.Lys471Glu) rs371066513 0.00004
NM_145207.3(AFG2A):c.1585C>T (p.Arg529Trp) rs755548599 0.00004
NM_145207.3(AFG2A):c.329A>G (p.Lys110Arg) rs369201362 0.00004
NM_145207.3(AFG2A):c.416T>A (p.Leu139Gln) rs749960674 0.00004
NM_145207.3(AFG2A):c.635C>G (p.Thr212Ser) rs761706494 0.00004
NM_145207.3(AFG2A):c.1307G>A (p.Arg436His) rs758036393 0.00003
NM_145207.3(AFG2A):c.1416A>T (p.Arg472Ser) rs374480184 0.00003
NM_145207.3(AFG2A):c.1501C>T (p.Arg501Cys) rs370908581 0.00003
NM_145207.3(AFG2A):c.1670A>C (p.His557Pro) rs373256503 0.00003
NM_145207.3(AFG2A):c.1723G>A (p.Ala575Thr) rs757625846 0.00003
NM_145207.3(AFG2A):c.1748A>G (p.Gln583Arg) rs371494148 0.00003
NM_145207.3(AFG2A):c.1855A>C (p.Ile619Leu) rs1434744773 0.00003
NM_145207.3(AFG2A):c.1946A>G (p.His649Arg) rs980171134 0.00003
NM_145207.3(AFG2A):c.2456T>C (p.Val819Ala) rs149604630 0.00003
NM_145207.3(AFG2A):c.2483C>T (p.Thr828Ile) rs374330092 0.00003
NM_145207.3(AFG2A):c.2569A>G (p.Ile857Val) rs752280801 0.00003
NM_145207.3(AFG2A):c.2T>C (p.Met1Thr) rs765170329 0.00003
NM_145207.3(AFG2A):c.739A>G (p.Thr247Ala) rs1295604845 0.00003
NM_145207.3(AFG2A):c.778A>G (p.Ile260Val) rs200105631 0.00003
NM_145207.3(AFG2A):c.1049T>A (p.Val350Glu) rs1286156167 0.00002
NM_145207.3(AFG2A):c.1075A>G (p.Ser359Gly) rs777369480 0.00002
NM_145207.3(AFG2A):c.1121A>G (p.Lys374Arg) rs919461238 0.00002
NM_145207.3(AFG2A):c.1277A>C (p.Lys426Thr) rs780078610 0.00002
NM_145207.3(AFG2A):c.1379C>T (p.Pro460Leu) rs752448565 0.00002
NM_145207.3(AFG2A):c.1400A>G (p.Asn467Ser) rs754102221 0.00002
NM_145207.3(AFG2A):c.1441A>T (p.Met481Leu) rs769181441 0.00002
NM_145207.3(AFG2A):c.1498A>G (p.Asn500Asp) rs770721082 0.00002
NM_145207.3(AFG2A):c.1609C>G (p.Leu537Val) rs1213636722 0.00002
NM_145207.3(AFG2A):c.1664G>C (p.Ser555Thr) rs111333879 0.00002
NM_145207.3(AFG2A):c.2050G>A (p.Glu684Lys) rs774587301 0.00002
NM_145207.3(AFG2A):c.2243G>A (p.Arg748His) rs374116277 0.00002
NM_145207.3(AFG2A):c.2413A>G (p.Ile805Val) rs1003808420 0.00002
NM_145207.3(AFG2A):c.2635C>T (p.Arg879Cys) rs28716389 0.00002
NM_145207.3(AFG2A):c.398C>T (p.Pro133Leu) rs756965142 0.00002
NM_145207.3(AFG2A):c.440C>T (p.Ala147Val) rs781153844 0.00002
NM_145207.3(AFG2A):c.581G>A (p.Arg194Gln) rs759311477 0.00002
NM_145207.3(AFG2A):c.644A>G (p.Gln215Arg) rs1019930983 0.00002
NM_145207.3(AFG2A):c.940A>G (p.Ile314Val) rs796051889 0.00002
NM_145207.3(AFG2A):c.998A>G (p.Asn333Ser) rs1475303519 0.00002
NM_145207.3(AFG2A):c.1004C>T (p.Thr335Ile) rs1416317921 0.00001
NM_145207.3(AFG2A):c.1039C>A (p.Gln347Lys) rs1402696275 0.00001
NM_145207.3(AFG2A):c.1045A>G (p.Lys349Glu) rs953086848 0.00001
NM_145207.3(AFG2A):c.1064T>G (p.Ile355Arg) rs751213743 0.00001
NM_145207.3(AFG2A):c.1147+16T>G rs537433950 0.00001
NM_145207.3(AFG2A):c.1156G>A (p.Ala386Thr) rs1729040562 0.00001
NM_145207.3(AFG2A):c.1192A>G (p.Thr398Ala) rs763477021 0.00001
NM_145207.3(AFG2A):c.124A>G (p.Thr42Ala) rs367922082 0.00001
NM_145207.3(AFG2A):c.1276A>C (p.Lys426Gln) rs932022828 0.00001
NM_145207.3(AFG2A):c.1334G>A (p.Arg445Gln) rs372616063 0.00001
NM_145207.3(AFG2A):c.1345A>G (p.Ile449Val) rs1175885311 0.00001
NM_145207.3(AFG2A):c.1410A>C (p.Glu470Asp) rs143105002 0.00001
NM_145207.3(AFG2A):c.1433T>C (p.Leu478Ser) rs1352778644 0.00001
NM_145207.3(AFG2A):c.1505C>T (p.Pro502Leu) rs759111245 0.00001
NM_145207.3(AFG2A):c.1508A>C (p.His503Pro) rs1730077184 0.00001
NM_145207.3(AFG2A):c.1523C>T (p.Ala508Val) rs763950506 0.00001
NM_145207.3(AFG2A):c.1560G>T (p.Glu520Asp) rs1399124170 0.00001
NM_145207.3(AFG2A):c.1562T>C (p.Ile521Thr) rs897870081 0.00001
NM_145207.3(AFG2A):c.1564G>A (p.Gly522Arg) rs758525794 0.00001
NM_145207.3(AFG2A):c.1574A>G (p.Asn525Ser) rs150684555 0.00001
NM_145207.3(AFG2A):c.15G>C (p.Lys5Asn) rs766206272 0.00001
NM_145207.3(AFG2A):c.1621C>T (p.Pro541Ser) rs201404410 0.00001
NM_145207.3(AFG2A):c.164-4A>G rs752411823 0.00001
NM_145207.3(AFG2A):c.1649T>G (p.Leu550Arg) rs779320647 0.00001
NM_145207.3(AFG2A):c.1678G>A (p.Val560Ile) rs756560225 0.00001
NM_145207.3(AFG2A):c.1793C>A (p.Thr598Asn) rs201286083 0.00001
NM_145207.3(AFG2A):c.1816A>G (p.Met606Val) rs1407178956 0.00001
NM_145207.3(AFG2A):c.1874C>T (p.Ser625Phe) rs973894365 0.00001
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser) rs375343753 0.00001
NM_145207.3(AFG2A):c.1900A>G (p.Ser634Gly) rs778940152 0.00001
NM_145207.3(AFG2A):c.1910T>A (p.Leu637Gln) rs1476739837 0.00001
NM_145207.3(AFG2A):c.192G>T (p.Gln64His) rs150877999 0.00001
NM_145207.3(AFG2A):c.199C>T (p.Leu67Phe) rs777517835 0.00001
NM_145207.3(AFG2A):c.206A>G (p.His69Arg) rs201699296 0.00001
NM_145207.3(AFG2A):c.2134-4C>G rs375025031 0.00001
NM_145207.3(AFG2A):c.2141G>A (p.Arg714Gln) rs757368104 0.00001
NM_145207.3(AFG2A):c.2191G>T (p.Ala731Ser) rs368185089 0.00001
NM_145207.3(AFG2A):c.2233G>A (p.Val745Ile) rs371305247 0.00001
NM_145207.3(AFG2A):c.2239G>A (p.Asp747Asn) rs138229076 0.00001
NM_145207.3(AFG2A):c.223A>G (p.Met75Val) rs1311055750 0.00001
NM_145207.3(AFG2A):c.2242C>T (p.Arg748Cys) rs980624727 0.00001
NM_145207.3(AFG2A):c.229T>G (p.Ser77Ala) rs755797663 0.00001
NM_145207.3(AFG2A):c.2320C>T (p.Arg774Cys) rs1430304976 0.00001
NM_145207.3(AFG2A):c.2321G>A (p.Arg774His) rs539850739 0.00001
NM_145207.3(AFG2A):c.2342C>G (p.Ala781Gly) rs1301917892 0.00001
NM_145207.3(AFG2A):c.2390C>T (p.Pro797Leu) rs1390467559 0.00001
NM_145207.3(AFG2A):c.2396C>A (p.Ala799Glu) rs1452110707 0.00001
NM_145207.3(AFG2A):c.239T>C (p.Ile80Thr) rs1262766068 0.00001
NM_145207.3(AFG2A):c.2440C>T (p.Pro814Ser) rs1246300838 0.00001
NM_145207.3(AFG2A):c.2526G>C (p.Glu842Asp) rs1410825121 0.00001
NM_145207.3(AFG2A):c.2590C>G (p.Gln864Glu) rs1226912133 0.00001
NM_145207.3(AFG2A):c.2642A>G (p.Tyr881Cys) rs750171052 0.00001
NM_145207.3(AFG2A):c.2653C>G (p.Gln885Glu) rs1387497334 0.00001
NM_145207.3(AFG2A):c.314G>C (p.Gly105Ala) rs916236528 0.00001
NM_145207.3(AFG2A):c.350C>T (p.Ala117Val) rs372665187 0.00001
NM_145207.3(AFG2A):c.382G>A (p.Ala128Thr) rs1465451211 0.00001
NM_145207.3(AFG2A):c.410C>T (p.Ala137Val) rs778362935 0.00001
NM_145207.3(AFG2A):c.463A>G (p.Ile155Val) rs772580612 0.00001
NM_145207.3(AFG2A):c.616C>A (p.Pro206Thr) rs1728922371 0.00001
NM_145207.3(AFG2A):c.649A>G (p.Met217Val) rs533234061 0.00001
NM_145207.3(AFG2A):c.665C>T (p.Ser222Phe) rs143998697 0.00001
NM_145207.3(AFG2A):c.758A>G (p.Tyr253Cys) rs755128357 0.00001
NM_145207.3(AFG2A):c.763C>A (p.Pro255Thr) rs1405585813 0.00001
NM_145207.3(AFG2A):c.764C>A (p.Pro255Gln) rs1447745763 0.00001
NM_145207.3(AFG2A):c.774C>G (p.Asp258Glu) rs1207728430 0.00001
NM_145207.3(AFG2A):c.77C>T (p.Ser26Phe) rs375140705 0.00001
NM_145207.3(AFG2A):c.799G>A (p.Val267Ile) rs776146045 0.00001
NM_145207.3(AFG2A):c.839G>C (p.Gly280Ala) rs1217362917 0.00001
NM_145207.3(AFG2A):c.899A>G (p.Asn300Ser) rs1439817941 0.00001
NM_145207.3(AFG2A):c.89C>T (p.Ala30Val) rs1251932014 0.00001
NC_000004.11:g.(?_123868368)_(124011880_?)dup
NC_000004.11:g.(?_123868378)_(123900551_?)dup
NC_000004.12:g.(?_122923123)_(123256200_?)dup
NC_000004.12:g.(?_122947213)_(122979406_?)dup
NM_145207.3(AFG2A):c.1006G>A (p.Glu336Lys) rs1728961214
NM_145207.3(AFG2A):c.1009A>G (p.Ile337Val)
NM_145207.3(AFG2A):c.100_102del (p.Ser34del) rs2125714048
NM_145207.3(AFG2A):c.1010T>C (p.Ile337Thr) rs775914629
NM_145207.3(AFG2A):c.101C>A (p.Ser34Tyr)
NM_145207.3(AFG2A):c.1021T>C (p.Ser341Pro)
NM_145207.3(AFG2A):c.1042T>C (p.Phe348Leu) rs757810366
NM_145207.3(AFG2A):c.1069G>A (p.Gly357Arg) rs755744719
NM_145207.3(AFG2A):c.1078A>G (p.Ser360Gly)
NM_145207.3(AFG2A):c.1079G>A (p.Ser360Asn) rs1019101272
NM_145207.3(AFG2A):c.1079G>C (p.Ser360Thr) rs1019101272
NM_145207.3(AFG2A):c.1091C>T (p.Ala364Val) rs1560792999
NM_145207.3(AFG2A):c.1133T>G (p.Leu378Arg) rs1553955916
NM_145207.3(AFG2A):c.1141A>C (p.Ser381Arg)
NM_145207.3(AFG2A):c.1142G>C (p.Ser381Thr) rs1237325691
NM_145207.3(AFG2A):c.1147+4T>A
NM_145207.3(AFG2A):c.1151T>C (p.Ile384Thr) rs780025409
NM_145207.3(AFG2A):c.1154C>T (p.Pro385Leu) rs1553956091
NM_145207.3(AFG2A):c.1168G>A (p.Val390Met)
NM_145207.3(AFG2A):c.1169T>G (p.Val390Gly) rs1729041877
NM_145207.3(AFG2A):c.1193C>T (p.Thr398Ile)
NM_145207.3(AFG2A):c.1210G>A (p.Ala404Thr)
NM_145207.3(AFG2A):c.1222G>A (p.Ala408Thr) rs1171191374
NM_145207.3(AFG2A):c.1222G>T (p.Ala408Ser) rs1171191374
NM_145207.3(AFG2A):c.1231G>T (p.Val411Phe) rs1729046327
NM_145207.3(AFG2A):c.1253T>C (p.Ile418Thr)
NM_145207.3(AFG2A):c.125C>T (p.Thr42Ile)
NM_145207.3(AFG2A):c.1277+6T>C rs1729049950
NM_145207.3(AFG2A):c.127T>A (p.Ser43Thr) rs1447532850
NM_145207.3(AFG2A):c.128C>G (p.Ser43Cys) rs1728175526
NM_145207.3(AFG2A):c.12GAA[1] (p.Lys5del) rs1432376693
NM_145207.3(AFG2A):c.1306C>T (p.Arg436Cys) rs1247048378
NM_145207.3(AFG2A):c.1312A>G (p.Ile438Val)
NM_145207.3(AFG2A):c.1334+4C>T
NM_145207.3(AFG2A):c.1336C>T (p.His446Tyr) rs536233030
NM_145207.3(AFG2A):c.133A>G (p.Thr45Ala) rs1188216410
NM_145207.3(AFG2A):c.1378C>T (p.Pro460Ser) rs2125746945
NM_145207.3(AFG2A):c.1390G>A (p.Gly464Arg) rs1318210993
NM_145207.3(AFG2A):c.1392G>T (p.Gly464=) rs777543729
NM_145207.3(AFG2A):c.1393G>T (p.Ala465Ser)
NM_145207.3(AFG2A):c.13A>G (p.Lys5Glu) rs1728160251
NM_145207.3(AFG2A):c.1417G>C (p.Val473Leu) rs1729204667
NM_145207.3(AFG2A):c.1451T>C (p.Ile484Thr) rs1729207632
NM_145207.3(AFG2A):c.1457C>T (p.Ser486Leu)
NM_145207.3(AFG2A):c.1458A>G (p.Ser486=)
NM_145207.3(AFG2A):c.1458A>T (p.Ser486=) rs1729208175
NM_145207.3(AFG2A):c.1466G>A (p.Ser489Asn) rs2125773366
NM_145207.3(AFG2A):c.1484T>C (p.Val495Ala) rs1730074710
NM_145207.3(AFG2A):c.1495A>C (p.Thr499Pro) rs1387106355
NM_145207.3(AFG2A):c.1507C>T (p.His503Tyr)
NM_145207.3(AFG2A):c.1510G>T (p.Ala504Ser)
NM_145207.3(AFG2A):c.1511C>A (p.Ala504Asp)
NM_145207.3(AFG2A):c.1522G>A (p.Ala508Thr) rs1730078599
NM_145207.3(AFG2A):c.1525C>T (p.Leu509Phe) rs1730079067
NM_145207.3(AFG2A):c.1573A>C (p.Asn525His) rs1730083556
NM_145207.3(AFG2A):c.1577C>T (p.Ala526Val)
NM_145207.3(AFG2A):c.157G>A (p.Glu53Lys) rs2125714239
NM_145207.3(AFG2A):c.1588C>A (p.Leu530Ile) rs2125773716
NM_145207.3(AFG2A):c.1592A>G (p.Asp531Gly) rs1578557046
NM_145207.3(AFG2A):c.1595T>G (p.Ile532Ser)
NM_145207.3(AFG2A):c.1622C>T (p.Pro541Leu) rs143957561
NM_145207.3(AFG2A):c.163+5A>G rs1195704154
NM_145207.3(AFG2A):c.1630C>G (p.Leu544Val) rs1553958519
NM_145207.3(AFG2A):c.164-3T>C rs1728488152
NM_145207.3(AFG2A):c.1646T>C (p.Leu549Pro) rs2125773891
NM_145207.3(AFG2A):c.1667C>T (p.Ala556Val) rs1468928668
NM_145207.3(AFG2A):c.1670A>G (p.His557Arg) rs373256503
NM_145207.3(AFG2A):c.169G>A (p.Asp57Asn)
NM_145207.3(AFG2A):c.1720T>G (p.Cys574Gly) rs754354165
NM_145207.3(AFG2A):c.1730G>A (p.Arg577Gln) rs754575085
NM_145207.3(AFG2A):c.1778G>T (p.Gly593Val) rs2125831557
NM_145207.3(AFG2A):c.1810C>G (p.Gln604Glu) rs373156651
NM_145207.3(AFG2A):c.1816A>T (p.Met606Leu)
NM_145207.3(AFG2A):c.1821T>G (p.Asn607Lys)
NM_145207.3(AFG2A):c.1831C>T (p.Pro611Ser)
NM_145207.3(AFG2A):c.1842G>A (p.Met614Ile)
NM_145207.3(AFG2A):c.1859A>G (p.Asp620Gly) rs1725532121
NM_145207.3(AFG2A):c.1862T>C (p.Val621Ala) rs1725532508
NM_145207.3(AFG2A):c.1868A>T (p.Asn623Ile) rs142275464
NM_145207.3(AFG2A):c.1870G>A (p.Val624Ile)
NM_145207.3(AFG2A):c.1873T>C (p.Ser625Pro) rs1221243310
NM_145207.3(AFG2A):c.1886T>C (p.Ile629Thr) rs752332204
NM_145207.3(AFG2A):c.1909C>G (p.Leu637Val) rs1303699326
NM_145207.3(AFG2A):c.1948C>G (p.Pro650Ala) rs1198860700
NM_145207.3(AFG2A):c.194A>G (p.Asn65Ser)
NM_145207.3(AFG2A):c.1963C>G (p.Arg655Gly) rs763737752
NM_145207.3(AFG2A):c.1967T>C (p.Met656Thr) rs367935913
NM_145207.3(AFG2A):c.1987G>A (p.Gly663Arg)
NM_145207.3(AFG2A):c.1988G>A (p.Gly663Glu)
NM_145207.3(AFG2A):c.1996C>T (p.Leu666Phe)
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_145207.3(AFG2A):c.1A>G (p.Met1Val) rs552219028
NM_145207.3(AFG2A):c.1A>T (p.Met1Leu) rs552219028
NM_145207.3(AFG2A):c.2000A>G (p.Tyr667Cys) rs998357703
NM_145207.3(AFG2A):c.2017T>A (p.Ser673Thr) rs1729149072
NM_145207.3(AFG2A):c.203T>C (p.Ile68Thr) rs2125722888
NM_145207.3(AFG2A):c.2048A>G (p.Asn683Ser)
NM_145207.3(AFG2A):c.2052G>C (p.Glu684Asp) rs1473246053
NM_145207.3(AFG2A):c.2077A>C (p.Lys693Gln)
NM_145207.3(AFG2A):c.2079+6_2079+7delinsAG
NM_145207.3(AFG2A):c.207T>A (p.His69Gln) rs1728492713
NM_145207.3(AFG2A):c.2088A>C (p.Glu696Asp) rs376160539
NM_145207.3(AFG2A):c.2117A>G (p.Glu706Gly) rs757427948
NM_145207.3(AFG2A):c.2133+3A>T rs2125965364
NM_145207.3(AFG2A):c.2135C>T (p.Thr712Ile)
NM_145207.3(AFG2A):c.2144A>C (p.Lys715Thr) rs1730784531
NM_145207.3(AFG2A):c.2159C>T (p.Ala720Val)
NM_145207.3(AFG2A):c.2167A>G (p.Ile723Val) rs534283508
NM_145207.3(AFG2A):c.2176T>G (p.Phe726Val)
NM_145207.3(AFG2A):c.2177T>C (p.Phe726Ser) rs2125966669
NM_145207.3(AFG2A):c.2189A>G (p.Asp730Gly) rs1730787671
NM_145207.3(AFG2A):c.2214-5A>G rs1560952661
NM_145207.3(AFG2A):c.2225C>T (p.Ala742Val) rs150422496
NM_145207.3(AFG2A):c.2252C>T (p.Ala751Val) rs2126010380
NM_145207.3(AFG2A):c.2257C>T (p.Leu753Phe) rs553514469
NM_145207.3(AFG2A):c.2271G>A (p.Met757Ile) rs1732759242
NM_145207.3(AFG2A):c.2284C>G (p.Gln762Glu) rs1207469751
NM_145207.3(AFG2A):c.2290A>G (p.Lys764Glu) rs1254734777
NM_145207.3(AFG2A):c.2326G>A (p.Asp776Asn) rs767856074
NM_145207.3(AFG2A):c.2348T>G (p.Met783Arg) rs1741463047
NM_145207.3(AFG2A):c.238A>G (p.Ile80Val) rs1728495318
NM_145207.3(AFG2A):c.2405G>A (p.Arg802Lys) rs1741466672
NM_145207.3(AFG2A):c.2406A>C (p.Arg802Ser) rs1741466817
NM_145207.3(AFG2A):c.2416T>C (p.Phe806Leu)
NM_145207.3(AFG2A):c.2418T>A (p.Phe806Leu) rs2126144723
NM_145207.3(AFG2A):c.241T>C (p.Cys81Arg)
NM_145207.3(AFG2A):c.244A>G (p.Ile82Val)
NM_145207.3(AFG2A):c.2453A>G (p.Glu818Gly)
NM_145207.3(AFG2A):c.2470C>A (p.Leu824Ile) rs770839216
NM_145207.3(AFG2A):c.2474T>C (p.Ile825Thr)
NM_145207.3(AFG2A):c.2483C>G (p.Thr828Ser) rs374330092
NM_145207.3(AFG2A):c.2485G>A (p.Asp829Asn) rs35206443
NM_145207.3(AFG2A):c.2505+2dup
NM_145207.3(AFG2A):c.2505+3A>G
NM_145207.3(AFG2A):c.2505G>C (p.Glu835Asp) rs765553109
NM_145207.3(AFG2A):c.2524G>C (p.Glu842Gln) rs2126180378
NM_145207.3(AFG2A):c.2527G>A (p.Ala843Thr) rs1744019425
NM_145207.3(AFG2A):c.2533C>T (p.Leu845Phe) rs777160273
NM_145207.3(AFG2A):c.2564A>G (p.Asn855Ser)
NM_145207.3(AFG2A):c.2564A>T (p.Asn855Ile)
NM_145207.3(AFG2A):c.2566C>T (p.Leu856Phe)
NM_145207.3(AFG2A):c.2586C>G (p.Phe862Leu) rs1344006407
NM_145207.3(AFG2A):c.2591A>C (p.Gln864Pro)
NM_145207.3(AFG2A):c.2623G>A (p.Glu875Lys) rs1317171361
NM_145207.3(AFG2A):c.2624A>C (p.Glu875Ala) rs1191156431
NM_145207.3(AFG2A):c.2633G>A (p.Arg878Lys) rs1744023792
NM_145207.3(AFG2A):c.2642A>T (p.Tyr881Phe) rs750171052
NM_145207.3(AFG2A):c.2646A>C (p.Glu882Asp) rs2126180458
NM_145207.3(AFG2A):c.2648A>G (p.Asp883Gly) rs780388261
NM_145207.3(AFG2A):c.266C>G (p.Thr89Ser) rs1728497805
NM_145207.3(AFG2A):c.2675C>T (p.Thr892Ile)
NM_145207.3(AFG2A):c.2679_2680del (p.Ter894ArgextTer?) rs1744027317
NM_145207.3(AFG2A):c.268A>G (p.Ser90Gly)
NM_145207.3(AFG2A):c.269G>T (p.Ser90Ile) rs796051893
NM_145207.3(AFG2A):c.26G>A (p.Arg9Gln)
NM_145207.3(AFG2A):c.288+47T>C
NM_145207.3(AFG2A):c.288+5G>C rs1162225635
NM_145207.3(AFG2A):c.362T>A (p.Val121Glu)
NM_145207.3(AFG2A):c.383C>T (p.Ala128Val) rs1326756676
NM_145207.3(AFG2A):c.432G>A (p.Met144Ile)
NM_145207.3(AFG2A):c.447-3C>T rs2125735882
NM_145207.3(AFG2A):c.458T>G (p.Met153Arg) rs375957621
NM_145207.3(AFG2A):c.484G>A (p.Gly162Ser) rs369894784
NM_145207.3(AFG2A):c.4T>C (p.Ser2Pro) rs2125713715
NM_145207.3(AFG2A):c.527G>T (p.Gly176Val)
NM_145207.3(AFG2A):c.535C>G (p.Leu179Val) rs1728912756
NM_145207.3(AFG2A):c.545C>T (p.Thr182Ile)
NM_145207.3(AFG2A):c.566A>G (p.Lys189Arg) rs377611654
NM_145207.3(AFG2A):c.574G>A (p.Val192Ile) rs1728918544
NM_145207.3(AFG2A):c.578T>G (p.Leu193Trp) rs1398526423
NM_145207.3(AFG2A):c.59T>C (p.Leu20Ser) rs2125713841
NM_145207.3(AFG2A):c.601A>G (p.Met201Val) rs377137936
NM_145207.3(AFG2A):c.646A>G (p.Arg216Gly) rs2125737631
NM_145207.3(AFG2A):c.65C>G (p.Ser22Cys) rs1560780127
NM_145207.3(AFG2A):c.680G>A (p.Ser227Asn) rs1358647368
NM_145207.3(AFG2A):c.700C>A (p.Gln234Lys) rs775269863
NM_145207.3(AFG2A):c.700C>G (p.Gln234Glu) rs775269863
NM_145207.3(AFG2A):c.715G>C (p.Asp239His) rs2125737857
NM_145207.3(AFG2A):c.731A>G (p.Gln244Arg)
NM_145207.3(AFG2A):c.734T>G (p.Ile245Ser) rs1728933023
NM_145207.3(AFG2A):c.747A>T (p.Arg249Ser)
NM_145207.3(AFG2A):c.749G>C (p.Ser250Thr)
NM_145207.3(AFG2A):c.764C>T (p.Pro255Leu)
NM_145207.3(AFG2A):c.77C>G (p.Ser26Cys) rs375140705
NM_145207.3(AFG2A):c.784A>G (p.Asn262Asp)
NM_145207.3(AFG2A):c.820A>G (p.Ser274Gly) rs2125738185
NM_145207.3(AFG2A):c.839G>A (p.Gly280Glu)
NM_145207.3(AFG2A):c.847C>G (p.Leu283Val) rs1728945931
NM_145207.3(AFG2A):c.862G>A (p.Gly288Ser) rs1728947765
NM_145207.3(AFG2A):c.886G>T (p.Ala296Ser)
NM_145207.3(AFG2A):c.89C>G (p.Ala30Gly) rs1251932014
NM_145207.3(AFG2A):c.911C>T (p.Thr304Ile) rs1728952435
NM_145207.3(AFG2A):c.92G>A (p.Arg31Gln) rs769355729
NM_145207.3(AFG2A):c.937A>C (p.Ser313Arg) rs1728953871
NM_145207.3(AFG2A):c.940A>T (p.Ile314Leu)
NM_145207.3(AFG2A):c.956A>G (p.Asn319Ser) rs1728955636
NM_145207.3(AFG2A):c.971A>T (p.Tyr324Phe) rs1380249629
NM_145207.3(AFG2A):c.97C>G (p.Pro33Ala)
NM_145207.3(AFG2A):c.97C>T (p.Pro33Ser) rs376956304
NM_145207.3(AFG2A):c.980C>G (p.Ser327Cys) rs1728957836
NM_145207.3(AFG2A):c.988A>G (p.Thr330Ala)

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