ClinVar Miner

List of variants in gene FBXO38 reported as uncertain significance for spinal muscular atrophy

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 389
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HGVS dbSNP gnomAD frequency
NM_205836.3(FBXO38):c.3379G>A (p.Asp1127Asn) rs145662452 0.00021
NM_205836.3(FBXO38):c.1861C>T (p.Arg621Cys) rs146121161 0.00019
NM_205836.3(FBXO38):c.1862G>A (p.Arg621His) rs199901955 0.00014
NM_205836.3(FBXO38):c.1117G>A (p.Val373Met) rs201279960 0.00011
NM_205836.3(FBXO38):c.1968G>T (p.Gln656His) rs370471937 0.00011
NM_205836.3(FBXO38):c.3261C>G (p.Ile1087Met) rs201719515 0.00010
NM_205836.3(FBXO38):c.2176G>A (p.Asp726Asn) rs548894296 0.00008
NM_205836.3(FBXO38):c.561A>G (p.Ile187Met) rs750935580 0.00008
NM_205836.3(FBXO38):c.1834G>A (p.Val612Ile) rs201999494 0.00007
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln) rs148337492 0.00006
NM_205836.3(FBXO38):c.1756C>T (p.Arg586Cys) rs144744644 0.00006
NM_205836.3(FBXO38):c.1858C>T (p.Arg620Trp) rs539397614 0.00006
NM_205836.3(FBXO38):c.2675G>A (p.Arg892His) rs183483408 0.00006
NM_205836.3(FBXO38):c.2683A>G (p.Met895Val) rs758909222 0.00006
NM_205836.3(FBXO38):c.3490G>A (p.Val1164Ile) rs902315086 0.00005
NM_205836.3(FBXO38):c.3536A>G (p.Asn1179Ser) rs373082610 0.00005
NM_205836.3(FBXO38):c.781G>A (p.Ala261Thr) rs760815624 0.00005
NM_205836.3(FBXO38):c.1169T>C (p.Ile390Thr) rs141355914 0.00004
NM_205836.3(FBXO38):c.1685C>T (p.Thr562Ile) rs748051444 0.00004
NM_205836.3(FBXO38):c.2095G>A (p.Asp699Asn) rs569854063 0.00004
NM_205836.3(FBXO38):c.2201G>C (p.Gly734Ala) rs745545823 0.00004
NM_205836.3(FBXO38):c.2212G>A (p.Glu738Lys) rs141211499 0.00004
NM_205836.3(FBXO38):c.2332T>A (p.Cys778Ser) rs770230868 0.00004
NM_205836.3(FBXO38):c.3358G>A (p.Ala1120Thr) rs140529583 0.00004
NM_205836.3(FBXO38):c.3473G>A (p.Arg1158His) rs754331887 0.00004
NM_205836.3(FBXO38):c.785G>A (p.Arg262Gln) rs1255912171 0.00004
NM_205836.3(FBXO38):c.1577G>A (p.Arg526Gln) rs376255193 0.00003
NM_205836.3(FBXO38):c.1688C>A (p.Pro563Gln) rs779538575 0.00003
NM_205836.3(FBXO38):c.173G>A (p.Arg58Gln) rs760456022 0.00003
NM_205836.3(FBXO38):c.1796A>C (p.Glu599Ala) rs781374639 0.00003
NM_205836.3(FBXO38):c.2201G>A (p.Gly734Asp) rs745545823 0.00003
NM_205836.3(FBXO38):c.2794A>G (p.Met932Val) rs372479730 0.00003
NM_205836.3(FBXO38):c.3439A>G (p.Met1147Val) rs550138374 0.00003
NM_205836.3(FBXO38):c.707C>A (p.Thr236Asn) rs370799682 0.00003
NM_205836.3(FBXO38):c.1528G>A (p.Asp510Asn) rs187292361 0.00002
NM_205836.3(FBXO38):c.1540C>T (p.His514Tyr) rs191831422 0.00002
NM_205836.3(FBXO38):c.1618G>A (p.Ala540Thr) rs779438870 0.00002
NM_205836.3(FBXO38):c.1711C>T (p.Pro571Ser) rs766059420 0.00002
NM_205836.3(FBXO38):c.1759G>A (p.Val587Ile) rs553996394 0.00002
NM_205836.3(FBXO38):c.1777A>G (p.Ile593Val) rs780773753 0.00002
NM_205836.3(FBXO38):c.1985A>G (p.Gln662Arg) rs748950456 0.00002
NM_205836.3(FBXO38):c.2234A>T (p.Asp745Val) rs145266253 0.00002
NM_205836.3(FBXO38):c.2303C>G (p.Ala768Gly) rs142129179 0.00002
NM_205836.3(FBXO38):c.2689C>T (p.Arg897Trp) rs138967647 0.00002
NM_205836.3(FBXO38):c.3047A>G (p.Gln1016Arg) rs1020465041 0.00002
NM_205836.3(FBXO38):c.3130C>T (p.Arg1044Cys) rs1269391994 0.00002
NM_205836.3(FBXO38):c.3362G>A (p.Arg1121Gln) rs149713669 0.00002
NM_205836.3(FBXO38):c.506G>A (p.Arg169His) rs771708027 0.00002
NM_205836.3(FBXO38):c.625A>G (p.Met209Val) rs778733611 0.00002
NM_205836.3(FBXO38):c.91A>C (p.Asn31His) rs112086763 0.00002
NM_205836.3(FBXO38):c.1012T>G (p.Ser338Ala) rs1051684244 0.00001
NM_205836.3(FBXO38):c.1022A>G (p.Lys341Arg) rs889149643 0.00001
NM_205836.3(FBXO38):c.1327G>C (p.Asp443His) rs1318477469 0.00001
NM_205836.3(FBXO38):c.1531A>G (p.Asn511Asp) rs746674990 0.00001
NM_205836.3(FBXO38):c.1567A>C (p.Asn523His) rs1468271814 0.00001
NM_205836.3(FBXO38):c.157A>G (p.Met53Val) rs1361110357 0.00001
NM_205836.3(FBXO38):c.1591C>G (p.Pro531Ala) rs928826029 0.00001
NM_205836.3(FBXO38):c.1698C>A (p.Ser566Arg) rs375251121 0.00001
NM_205836.3(FBXO38):c.1729G>C (p.Glu577Gln) rs759341101 0.00001
NM_205836.3(FBXO38):c.1757G>A (p.Arg586His) rs369833842 0.00001
NM_205836.3(FBXO38):c.1852G>A (p.Gly618Ser) rs750086990 0.00001
NM_205836.3(FBXO38):c.1859G>A (p.Arg620Gln) rs766830490 0.00001
NM_205836.3(FBXO38):c.1880A>G (p.Glu627Gly) rs1376821948 0.00001
NM_205836.3(FBXO38):c.1996G>A (p.Glu666Lys) rs770649145 0.00001
NM_205836.3(FBXO38):c.2053A>G (p.Met685Val) rs775906161 0.00001
NM_205836.3(FBXO38):c.2062G>A (p.Ala688Thr) rs913559304 0.00001
NM_205836.3(FBXO38):c.206G>A (p.Arg69Gln) rs761704413 0.00001
NM_205836.3(FBXO38):c.2156A>G (p.Asn719Ser) rs1027079492 0.00001
NM_205836.3(FBXO38):c.2189C>T (p.Thr730Met) rs767223993 0.00001
NM_205836.3(FBXO38):c.2203G>A (p.Gly735Ser) rs779561720 0.00001
NM_205836.3(FBXO38):c.2295G>T (p.Glu765Asp) rs966952897 0.00001
NM_205836.3(FBXO38):c.2309G>A (p.Ser770Asn) rs1485057991 0.00001
NM_205836.3(FBXO38):c.239G>A (p.Arg80Gln) rs751167811 0.00001
NM_205836.3(FBXO38):c.2402G>A (p.Arg801Gln) rs751618541 0.00001
NM_205836.3(FBXO38):c.2423C>T (p.Pro808Leu) rs757209133 0.00001
NM_205836.3(FBXO38):c.2433G>A (p.Thr811=) rs368967979 0.00001
NM_205836.3(FBXO38):c.2695C>T (p.Arg899Trp) rs755084155 0.00001
NM_205836.3(FBXO38):c.2711C>A (p.Ser904Tyr) rs1014349605 0.00001
NM_205836.3(FBXO38):c.2801A>G (p.Asn934Ser) rs1463668452 0.00001
NM_205836.3(FBXO38):c.2837C>G (p.Pro946Arg) rs144849921 0.00001
NM_205836.3(FBXO38):c.286A>G (p.Thr96Ala) rs1185057010 0.00001
NM_205836.3(FBXO38):c.2898T>G (p.Asn966Lys) rs148580014 0.00001
NM_205836.3(FBXO38):c.2995C>T (p.Arg999Cys) rs760782381 0.00001
NM_205836.3(FBXO38):c.3024+5C>T rs781235057 0.00001
NM_205836.3(FBXO38):c.3163A>G (p.Ile1055Val) rs1399229383 0.00001
NM_205836.3(FBXO38):c.3236C>A (p.Pro1079His) rs757930681 0.00001
NM_205836.3(FBXO38):c.3277G>A (p.Val1093Ile) rs779324806 0.00001
NM_205836.3(FBXO38):c.338G>A (p.Arg113Gln) rs1201701262 0.00001
NM_205836.3(FBXO38):c.3390C>A (p.Ser1130Arg) rs1203605915 0.00001
NM_205836.3(FBXO38):c.3391A>C (p.Thr1131Pro) rs1561551063 0.00001
NM_205836.3(FBXO38):c.340T>C (p.Tyr114His) rs144375164 0.00001
NM_205836.3(FBXO38):c.3428C>T (p.Ala1143Val) rs1554083508 0.00001
NM_205836.3(FBXO38):c.3471G>A (p.Met1157Ile) rs764469305 0.00001
NM_205836.3(FBXO38):c.3482A>C (p.Lys1161Thr) rs997254848 0.00001
NM_205836.3(FBXO38):c.3506T>C (p.Val1169Ala) rs1754718621 0.00001
NM_205836.3(FBXO38):c.409G>A (p.Ala137Thr) rs749305250 0.00001
NM_205836.3(FBXO38):c.529A>G (p.Ile177Val) rs560664064 0.00001
NM_205836.3(FBXO38):c.652G>A (p.Val218Ile) rs747805838 0.00001
NM_205836.3(FBXO38):c.694A>G (p.Ile232Val) rs1453234833 0.00001
NM_205836.3(FBXO38):c.812G>A (p.Arg271Gln) rs896205714 0.00001
NM_205836.3(FBXO38):c.86A>G (p.Tyr29Cys) rs775196268 0.00001
NM_205836.3(FBXO38):c.871G>A (p.Gly291Ser) rs1752601122 0.00001
NM_205836.3(FBXO38):c.915T>G (p.Asn305Lys) rs767430187 0.00001
NM_205836.3(FBXO38):c.959G>A (p.Arg320His) rs756850214 0.00001
NM_205836.3(FBXO38):c.962+3A>G rs779258103 0.00001
NM_205836.3(FBXO38):c.988T>A (p.Ser330Thr) rs764932115 0.00001
NC_000005.10:g.(?_148394767)_(148406404_?)dup
NC_000005.9:g.(?_147762498)_(147823399_?)del
NM_205836.3(FBXO38):c.1073T>A (p.Val358Glu)
NM_205836.3(FBXO38):c.1093+2T>A rs1554079701
NM_205836.3(FBXO38):c.1096A>C (p.Arg366=)
NM_205836.3(FBXO38):c.1109C>T (p.Ala370Val)
NM_205836.3(FBXO38):c.1123T>C (p.Tyr375His)
NM_205836.3(FBXO38):c.1132G>T (p.Ala378Ser)
NM_205836.3(FBXO38):c.1154G>T (p.Gly385Val) rs1554080059
NM_205836.3(FBXO38):c.1156A>G (p.Ile386Val)
NM_205836.3(FBXO38):c.1159A>G (p.Ile387Val) rs1271122205
NM_205836.3(FBXO38):c.1174A>G (p.Met392Val)
NM_205836.3(FBXO38):c.1190A>G (p.Glu397Gly)
NM_205836.3(FBXO38):c.1196T>C (p.Phe399Ser)
NM_205836.3(FBXO38):c.1202G>C (p.Cys401Ser)
NM_205836.3(FBXO38):c.1208A>G (p.Lys403Arg)
NM_205836.3(FBXO38):c.1219A>G (p.Ile407Val)
NM_205836.3(FBXO38):c.1226A>G (p.Asn409Ser)
NM_205836.3(FBXO38):c.1253A>G (p.Asn418Ser)
NM_205836.3(FBXO38):c.1258A>G (p.Ile420Val) rs1752930598
NM_205836.3(FBXO38):c.1265-3C>T
NM_205836.3(FBXO38):c.1273A>G (p.Arg425Gly)
NM_205836.3(FBXO38):c.128+6A>G
NM_205836.3(FBXO38):c.1283G>A (p.Arg428Gln)
NM_205836.3(FBXO38):c.1307G>A (p.Arg436Gln)
NM_205836.3(FBXO38):c.1310G>T (p.Cys437Phe) rs1554080351
NM_205836.3(FBXO38):c.1313A>G (p.His438Arg) rs2113584557
NM_205836.3(FBXO38):c.1329C>A (p.Asp443Glu) rs770394960
NM_205836.3(FBXO38):c.1349A>T (p.Glu450Val)
NM_205836.3(FBXO38):c.1353A>C (p.Leu451Phe)
NM_205836.3(FBXO38):c.1357C>T (p.Pro453Ser)
NM_205836.3(FBXO38):c.135C>G (p.Leu45=)
NM_205836.3(FBXO38):c.137C>T (p.Pro46Leu) rs1403533819
NM_205836.3(FBXO38):c.1387A>C (p.Met463Leu) rs2113584815
NM_205836.3(FBXO38):c.1393C>T (p.Arg465Cys)
NM_205836.3(FBXO38):c.13A>C (p.Lys5Gln)
NM_205836.3(FBXO38):c.1407+5G>A
NM_205836.3(FBXO38):c.1417C>T (p.Arg473Ter) rs1172459945
NM_205836.3(FBXO38):c.1418G>A (p.Arg473Gln) rs770228743
NM_205836.3(FBXO38):c.1445T>C (p.Ile482Thr)
NM_205836.3(FBXO38):c.1454C>G (p.Ser485Ter)
NM_205836.3(FBXO38):c.1471A>C (p.Asn491His) rs1561531225
NM_205836.3(FBXO38):c.1484A>G (p.Asn495Ser)
NM_205836.3(FBXO38):c.1487A>G (p.Asn496Ser) rs1315072548
NM_205836.3(FBXO38):c.1492G>A (p.Asp498Asn)
NM_205836.3(FBXO38):c.1493A>G (p.Asp498Gly)
NM_205836.3(FBXO38):c.1511A>G (p.Asn504Ser)
NM_205836.3(FBXO38):c.1513A>G (p.Asn505Asp) rs1753101306
NM_205836.3(FBXO38):c.1533C>G (p.Asn511Lys)
NM_205836.3(FBXO38):c.1535A>G (p.Asn512Ser)
NM_205836.3(FBXO38):c.1537C>G (p.His513Asp) rs1753104074
NM_205836.3(FBXO38):c.155G>A (p.Cys52Tyr) rs1400080044
NM_205836.3(FBXO38):c.1570G>A (p.Asp524Asn) rs2113589581
NM_205836.3(FBXO38):c.1576C>T (p.Arg526Trp)
NM_205836.3(FBXO38):c.157A>T (p.Met53Leu)
NM_205836.3(FBXO38):c.1591C>T (p.Pro531Ser)
NM_205836.3(FBXO38):c.1617C>T (p.Asp539=)
NM_205836.3(FBXO38):c.1618+1G>T rs1581261359
NM_205836.3(FBXO38):c.1642G>A (p.Val548Ile) rs751449877
NM_205836.3(FBXO38):c.1663G>A (p.Val555Met) rs1012140873
NM_205836.3(FBXO38):c.1669G>A (p.Glu557Lys)
NM_205836.3(FBXO38):c.1670A>G (p.Glu557Gly)
NM_205836.3(FBXO38):c.1678A>C (p.Asn560His)
NM_205836.3(FBXO38):c.1682A>G (p.Asn561Ser) rs1554081337
NM_205836.3(FBXO38):c.1685C>A (p.Thr562Asn) rs748051444
NM_205836.3(FBXO38):c.1709T>C (p.Ile570Thr)
NM_205836.3(FBXO38):c.1717G>T (p.Asp573Tyr)
NM_205836.3(FBXO38):c.1720G>T (p.Val574Phe)
NM_205836.3(FBXO38):c.172C>T (p.Arg58Trp)
NM_205836.3(FBXO38):c.173G>T (p.Arg58Leu)
NM_205836.3(FBXO38):c.1747G>A (p.Gly583Ser)
NM_205836.3(FBXO38):c.1766A>G (p.Lys589Arg)
NM_205836.3(FBXO38):c.1774T>G (p.Ser592Ala) rs10043775
NM_205836.3(FBXO38):c.1791T>G (p.Asp597Glu) rs1554081566
NM_205836.3(FBXO38):c.17A>G (p.Lys6Arg)
NM_205836.3(FBXO38):c.1800T>A (p.Ser600Arg)
NM_205836.3(FBXO38):c.1801G>T (p.Asp601Tyr) rs2113621540
NM_205836.3(FBXO38):c.1805del (p.Asp602fs)
NM_205836.3(FBXO38):c.1806T>A (p.Asp602Glu) rs1222414075
NM_205836.3(FBXO38):c.1813G>C (p.Asp605His)
NM_205836.3(FBXO38):c.1816A>G (p.Ser606Gly)
NM_205836.3(FBXO38):c.1829A>C (p.Gln610Pro) rs771845635
NM_205836.3(FBXO38):c.183G>T (p.Lys61Asn)
NM_205836.3(FBXO38):c.1840A>G (p.Ile614Val)
NM_205836.3(FBXO38):c.1842T>G (p.Ile614Met)
NM_205836.3(FBXO38):c.1868C>G (p.Ser623Cys)
NM_205836.3(FBXO38):c.1872A>T (p.Glu624Asp)
NM_205836.3(FBXO38):c.1874G>A (p.Arg625His)
NM_205836.3(FBXO38):c.1888G>A (p.Gly630Arg)
NM_205836.3(FBXO38):c.188C>T (p.Ala63Val) rs2113521830
NM_205836.3(FBXO38):c.1914G>C (p.Leu638Phe)
NM_205836.3(FBXO38):c.1918+3G>A rs758236031
NM_205836.3(FBXO38):c.1919-2A>C rs2113627058
NM_205836.3(FBXO38):c.1922G>A (p.Ser641Asn)
NM_205836.3(FBXO38):c.193A>G (p.Thr65Ala)
NM_205836.3(FBXO38):c.1945C>T (p.Arg649Ter)
NM_205836.3(FBXO38):c.1946G>A (p.Arg649Gln)
NM_205836.3(FBXO38):c.1953G>C (p.Arg651Ser) rs2113627223
NM_205836.3(FBXO38):c.1970T>A (p.Met657Lys) rs1753763617
NM_205836.3(FBXO38):c.1989T>G (p.Phe663Leu)
NM_205836.3(FBXO38):c.1991C>T (p.Pro664Leu)
NM_205836.3(FBXO38):c.199T>A (p.Tyr67Asn) rs1751991718
NM_205836.3(FBXO38):c.1A>G (p.Met1Val) rs1758391504
NM_205836.3(FBXO38):c.2008T>C (p.Cys670Arg)
NM_205836.3(FBXO38):c.2050G>T (p.Asp684Tyr)
NM_205836.3(FBXO38):c.2057A>C (p.Lys686Thr)
NM_205836.3(FBXO38):c.2062G>T (p.Ala688Ser)
NM_205836.3(FBXO38):c.2069A>T (p.Asp690Val)
NM_205836.3(FBXO38):c.2072T>C (p.Ile691Thr) rs765514195
NM_205836.3(FBXO38):c.2075C>T (p.Pro692Leu) rs1581280139
NM_205836.3(FBXO38):c.2089A>G (p.Asn697Asp)
NM_205836.3(FBXO38):c.2096A>T (p.Asp699Val) rs1262248200
NM_205836.3(FBXO38):c.209T>C (p.Val70Ala)
NM_205836.3(FBXO38):c.2114G>A (p.Ser705Asn)
NM_205836.3(FBXO38):c.2128A>G (p.Ser710Gly) rs2113627979
NM_205836.3(FBXO38):c.2131A>C (p.Thr711Pro)
NM_205836.3(FBXO38):c.2134G>C (p.Val712Leu) rs1753773505
NM_205836.3(FBXO38):c.2135T>C (p.Val712Ala)
NM_205836.3(FBXO38):c.2150C>T (p.Ser717Leu)
NM_205836.3(FBXO38):c.2152C>T (p.His718Tyr)
NM_205836.3(FBXO38):c.2164T>C (p.Ser722Pro)
NM_205836.3(FBXO38):c.2171G>A (p.Ser724Asn)
NM_205836.3(FBXO38):c.2177A>C (p.Asp726Ala) rs2113628246
NM_205836.3(FBXO38):c.2182G>A (p.Val728Ile) rs763198382
NM_205836.3(FBXO38):c.218_247del (p.Val73_Trp82del) rs1751992784
NM_205836.3(FBXO38):c.2207C>T (p.Ser736Phe)
NM_205836.3(FBXO38):c.2224A>T (p.Thr742Ser)
NM_205836.3(FBXO38):c.2231T>C (p.Val744Ala)
NM_205836.3(FBXO38):c.2236G>A (p.Val746Met)
NM_205836.3(FBXO38):c.2257T>G (p.Ser753Ala) rs1188977922
NM_205836.3(FBXO38):c.2263G>A (p.Gly755Ser)
NM_205836.3(FBXO38):c.2275G>A (p.Asp759Asn) rs1300558545
NM_205836.3(FBXO38):c.22G>A (p.Val8Met)
NM_205836.3(FBXO38):c.2326T>C (p.Cys776Arg) rs1400525129
NM_205836.3(FBXO38):c.2332T>C (p.Cys778Arg)
NM_205836.3(FBXO38):c.2338A>G (p.Arg780Gly)
NM_205836.3(FBXO38):c.2340G>T (p.Arg780Ser) rs143193609
NM_205836.3(FBXO38):c.2341C>A (p.Pro781Thr) rs116266000
NM_205836.3(FBXO38):c.2362A>C (p.Thr788Pro)
NM_205836.3(FBXO38):c.2367C>G (p.Ser789Arg)
NM_205836.3(FBXO38):c.236G>T (p.Gly79Val)
NM_205836.3(FBXO38):c.2377G>A (p.Asp793Asn)
NM_205836.3(FBXO38):c.2378A>G (p.Asp793Gly)
NM_205836.3(FBXO38):c.2386C>T (p.Arg796Cys)
NM_205836.3(FBXO38):c.2387G>A (p.Arg796His)
NM_205836.3(FBXO38):c.238C>T (p.Arg80Trp)
NM_205836.3(FBXO38):c.2395A>G (p.Thr799Ala)
NM_205836.3(FBXO38):c.2402G>T (p.Arg801Leu) rs751618541
NM_205836.3(FBXO38):c.2404G>A (p.Ala802Thr)
NM_205836.3(FBXO38):c.2407T>C (p.Cys803Arg) rs1161148986
NM_205836.3(FBXO38):c.2425G>T (p.Asp809Tyr)
NM_205836.3(FBXO38):c.2426A>C (p.Asp809Ala)
NM_205836.3(FBXO38):c.2432C>G (p.Thr811Arg)
NM_205836.3(FBXO38):c.2432C>T (p.Thr811Met)
NM_205836.3(FBXO38):c.247G>A (p.Glu83Lys)
NM_205836.3(FBXO38):c.261T>A (p.Ser87Arg)
NM_205836.3(FBXO38):c.2663A>G (p.Lys888Arg)
NM_205836.3(FBXO38):c.2671C>T (p.Pro891Ser)
NM_205836.3(FBXO38):c.2674C>T (p.Arg892Cys)
NM_205836.3(FBXO38):c.2684T>C (p.Met895Thr)
NM_205836.3(FBXO38):c.2714C>G (p.Thr905Ser)
NM_205836.3(FBXO38):c.2746C>T (p.His916Tyr) rs2113648332
NM_205836.3(FBXO38):c.274G>T (p.Ala92Ser)
NM_205836.3(FBXO38):c.2755G>A (p.Val919Ile) rs1554082512
NM_205836.3(FBXO38):c.2800A>T (p.Asn934Tyr)
NM_205836.3(FBXO38):c.2818C>G (p.Leu940Val) rs1347172293
NM_205836.3(FBXO38):c.2857+3A>G
NM_205836.3(FBXO38):c.2905A>G (p.Ile969Val) rs373620719
NM_205836.3(FBXO38):c.2908G>T (p.Val970Leu) rs1754471311
NM_205836.3(FBXO38):c.2915G>A (p.Arg972Gln)
NM_205836.3(FBXO38):c.2924A>G (p.Tyr975Cys)
NM_205836.3(FBXO38):c.2941C>G (p.Leu981Val)
NM_205836.3(FBXO38):c.2947A>G (p.Met983Val)
NM_205836.3(FBXO38):c.2978T>C (p.Met993Thr)
NM_205836.3(FBXO38):c.2981C>T (p.Pro994Leu)
NM_205836.3(FBXO38):c.2992A>G (p.Asn998Asp)
NM_205836.3(FBXO38):c.2993A>G (p.Asn998Ser) rs1293617168
NM_205836.3(FBXO38):c.3001A>G (p.Ile1001Val)
NM_205836.3(FBXO38):c.3024+6G>A rs146510581
NM_205836.3(FBXO38):c.3032C>T (p.Thr1011Ile)
NM_205836.3(FBXO38):c.3105C>A (p.Asn1035Lys)
NM_205836.3(FBXO38):c.310G>A (p.Val104Ile)
NM_205836.3(FBXO38):c.3119G>A (p.Arg1040Gln)
NM_205836.3(FBXO38):c.3131G>A (p.Arg1044His) rs1754565238
NM_205836.3(FBXO38):c.3136C>T (p.Arg1046Cys)
NM_205836.3(FBXO38):c.3137G>A (p.Arg1046His) rs145142109
NM_205836.3(FBXO38):c.3140G>A (p.Ser1047Asn) rs1208732580
NM_205836.3(FBXO38):c.3152C>T (p.Thr1051Ile)
NM_205836.3(FBXO38):c.3164T>C (p.Ile1055Thr)
NM_205836.3(FBXO38):c.3170+11_3170+12delinsCC
NM_205836.3(FBXO38):c.3185A>G (p.Tyr1062Cys)
NM_205836.3(FBXO38):c.3212G>C (p.Ser1071Thr) rs1044917671
NM_205836.3(FBXO38):c.3216AGA[1] (p.Glu1073del)
NM_205836.3(FBXO38):c.3218A>T (p.Glu1073Val) rs1581313648
NM_205836.3(FBXO38):c.3223T>G (p.Leu1075Val)
NM_205836.3(FBXO38):c.3226A>G (p.Lys1076Glu)
NM_205836.3(FBXO38):c.3244C>G (p.Pro1082Ala) rs1754612690
NM_205836.3(FBXO38):c.3265A>C (p.Thr1089Pro) rs1049321456
NM_205836.3(FBXO38):c.326G>A (p.Gly109Asp) rs2113531978
NM_205836.3(FBXO38):c.3274+4A>C
NM_205836.3(FBXO38):c.3274+4A>T
NM_205836.3(FBXO38):c.3284A>T (p.Asp1095Val)
NM_205836.3(FBXO38):c.3335G>A (p.Arg1112Gln)
NM_205836.3(FBXO38):c.3354C>G (p.Ser1118Arg) rs147580008
NM_205836.3(FBXO38):c.3367G>A (p.Asp1123Asn)
NM_205836.3(FBXO38):c.337C>T (p.Arg113Ter) rs1306910725
NM_205836.3(FBXO38):c.3383A>G (p.Glu1128Gly)
NM_205836.3(FBXO38):c.3387A>C (p.Glu1129Asp)
NM_205836.3(FBXO38):c.3392C>G (p.Thr1131Ser)
NM_205836.3(FBXO38):c.341A>C (p.Tyr114Ser)
NM_205836.3(FBXO38):c.341A>G (p.Tyr114Cys) rs1433144114
NM_205836.3(FBXO38):c.3433A>T (p.Ile1145Phe)
NM_205836.3(FBXO38):c.3446C>T (p.Thr1149Ile) rs2113673143
NM_205836.3(FBXO38):c.3462T>G (p.Ile1154Met)
NM_205836.3(FBXO38):c.3472C>T (p.Arg1158Cys)
NM_205836.3(FBXO38):c.3473G>T (p.Arg1158Leu)
NM_205836.3(FBXO38):c.34A>G (p.Ile12Val) rs1160174748
NM_205836.3(FBXO38):c.3500G>A (p.Arg1167Gln)
NM_205836.3(FBXO38):c.3547G>C (p.Val1183Leu)
NM_205836.3(FBXO38):c.3562A>T (p.Ile1188Phe)
NM_205836.3(FBXO38):c.358G>T (p.Val120Leu) rs2113532084
NM_205836.3(FBXO38):c.373G>A (p.Ala125Thr)
NM_205836.3(FBXO38):c.376T>C (p.Phe126Leu)
NM_205836.3(FBXO38):c.37A>T (p.Met13Leu)
NM_205836.3(FBXO38):c.401C>G (p.Ala134Gly)
NM_205836.3(FBXO38):c.405G>T (p.Leu135Phe)
NM_205836.3(FBXO38):c.418A>C (p.Asn140His)
NM_205836.3(FBXO38):c.418A>G (p.Asn140Asp)
NM_205836.3(FBXO38):c.448G>A (p.Glu150Lys)
NM_205836.3(FBXO38):c.469A>G (p.Thr157Ala)
NM_205836.3(FBXO38):c.473dup (p.Tyr158Ter)
NM_205836.3(FBXO38):c.474T>A (p.Tyr158Ter) rs2113533186
NM_205836.3(FBXO38):c.481C>T (p.His161Tyr)
NM_205836.3(FBXO38):c.482A>G (p.His161Arg)
NM_205836.3(FBXO38):c.484G>T (p.Val162Phe) rs2113533252
NM_205836.3(FBXO38):c.497G>A (p.Gly166Glu) rs1404180680
NM_205836.3(FBXO38):c.4G>A (p.Gly2Arg) rs1272218730
NM_205836.3(FBXO38):c.505C>T (p.Arg169Cys)
NM_205836.3(FBXO38):c.512G>A (p.Arg171His)
NM_205836.3(FBXO38):c.51T>G (p.Ile17Met)
NM_205836.3(FBXO38):c.52C>A (p.Pro18Thr)
NM_205836.3(FBXO38):c.560T>C (p.Ile187Thr) rs1470214468
NM_205836.3(FBXO38):c.592+3G>A
NM_205836.3(FBXO38):c.613C>G (p.Pro205Ala)
NM_205836.3(FBXO38):c.616T>C (p.Cys206Arg) rs398122838
NM_205836.3(FBXO38):c.617G>C (p.Cys206Ser) rs757064226
NM_205836.3(FBXO38):c.61A>G (p.Met21Val) rs1581225783
NM_205836.3(FBXO38):c.62T>C (p.Met21Thr)
NM_205836.3(FBXO38):c.633G>C (p.Arg211Ser) rs779718633
NM_205836.3(FBXO38):c.634C>T (p.His212Tyr) rs746462800
NM_205836.3(FBXO38):c.641A>G (p.Tyr214Cys)
NM_205836.3(FBXO38):c.662C>A (p.Thr221Asn)
NM_205836.3(FBXO38):c.679A>C (p.Lys227Gln) rs1581241597
NM_205836.3(FBXO38):c.688C>A (p.Leu230Ile) rs763481232
NM_205836.3(FBXO38):c.688C>T (p.Leu230Phe)
NM_205836.3(FBXO38):c.696C>T (p.Ile232=)
NM_205836.3(FBXO38):c.698G>A (p.Ser233Asn)
NM_205836.3(FBXO38):c.703A>G (p.Arg235Gly)
NM_205836.3(FBXO38):c.705A>T (p.Arg235Ser)
NM_205836.3(FBXO38):c.707C>T (p.Thr236Ile)
NM_205836.3(FBXO38):c.712G>C (p.Val238Leu) rs144890577
NM_205836.3(FBXO38):c.71A>G (p.Asp24Gly)
NM_205836.3(FBXO38):c.736A>T (p.Thr246Ser)
NM_205836.3(FBXO38):c.767C>T (p.Thr256Ile)
NM_205836.3(FBXO38):c.771C>T (p.Gly257=) rs1581244170
NM_205836.3(FBXO38):c.775G>A (p.Ala259Thr)
NM_205836.3(FBXO38):c.79A>G (p.Lys27Glu)
NM_205836.3(FBXO38):c.801A>T (p.Leu267Phe)
NM_205836.3(FBXO38):c.814G>A (p.Val272Ile)
NM_205836.3(FBXO38):c.856A>G (p.Ser286Gly)
NM_205836.3(FBXO38):c.869G>A (p.Gly290Asp)
NM_205836.3(FBXO38):c.880A>T (p.Asn294Tyr) rs1752601349
NM_205836.3(FBXO38):c.892A>G (p.Ile298Val)
NM_205836.3(FBXO38):c.898C>A (p.Leu300Met)
NM_205836.3(FBXO38):c.898C>G (p.Leu300Val)
NM_205836.3(FBXO38):c.911A>G (p.Lys304Arg)
NM_205836.3(FBXO38):c.919C>T (p.Leu307Phe)
NM_205836.3(FBXO38):c.926T>G (p.Val309Gly) rs1752606337
NM_205836.3(FBXO38):c.92A>G (p.Asn31Ser)
NM_205836.3(FBXO38):c.938A>C (p.Tyr313Ser)
NM_205836.3(FBXO38):c.976C>T (p.Arg326Trp) rs763613189
NM_205836.3(FBXO38):c.977G>A (p.Arg326Gln)
NM_205836.3(FBXO38):c.981C>G (p.Ile327Met)

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