ClinVar Miner

List of variants in gene ALDH18A1 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.559-272C>T rs1890187 0.94709
NM_002860.4(ALDH18A1):c.2111-282A>C rs497331 0.92535
NM_002860.4(ALDH18A1):c.1153-280C>T rs10509687 0.88458
NM_002860.4(ALDH18A1):c.-29+247C>G rs2225892 0.84125
NM_002860.4(ALDH18A1):c.559-234C>G rs1890186 0.77098
NM_002860.4(ALDH18A1):c.2207-134T>C rs496426 0.76383
NM_002860.4(ALDH18A1):c.88+126A>C rs9787589 0.76383
NM_002860.4(ALDH18A1):c.304-34A>G rs2275273 0.66221
NM_002860.4(ALDH18A1):c.718-163C>T rs3750701 0.62733
NM_002860.4(ALDH18A1):c.1605+138T>A rs749049 0.48809
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_002860.4(ALDH18A1):c.1606-48T>G rs2296692 0.42481
NM_002860.4(ALDH18A1):c.2207-46G>A rs7099284 0.42467
NM_002860.4(ALDH18A1):c.2110+170A>G rs2296689 0.38621
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.38617
NM_002860.4(ALDH18A1):c.2111-148T>C rs943342 0.38608
NM_002860.4(ALDH18A1):c.2111-194C>T rs943343 0.38601
NM_002860.4(ALDH18A1):c.304-293C>T rs7069943 0.34306
NM_002860.4(ALDH18A1):c.1467+126C>T rs507017 0.34079
NM_002860.4(ALDH18A1):c.2110+24A>T rs2296691 0.27977
NM_002860.4(ALDH18A1):c.1924-128G>C rs11188400 0.27894
NM_002860.4(ALDH18A1):c.304-151A>G rs11188411 0.27629
NM_002860.4(ALDH18A1):c.1605+119C>T rs749050 0.27608
NM_002860.4(ALDH18A1):c.809-330G>A rs10882644 0.27327
NM_002860.4(ALDH18A1):c.559-69G>A rs11188409 0.21653
NM_002860.4(ALDH18A1):c.1153-30T>C rs10509688 0.13923
NM_002860.4(ALDH18A1):c.933+173G>C rs12414904 0.13197
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_002860.4(ALDH18A1):c.1246+105A>G rs57670810 0.08774
NM_002860.4(ALDH18A1):c.1467+109A>G rs140424167 0.08000
NM_002860.4(ALDH18A1):c.558+289G>T rs11188410 0.05871
NM_002860.4(ALDH18A1):c.808+287T>C rs80336579 0.05023
NM_002860.4(ALDH18A1):c.1467+290C>A rs144896093 0.04747
NM_002860.4(ALDH18A1):c.808+152A>G rs117197936 0.03894
NM_002860.4(ALDH18A1):c.89-285G>T rs117519014 0.03470
NM_002860.4(ALDH18A1):c.1605+120C>G rs118188431 0.03468
NM_002860.4(ALDH18A1):c.89-253T>G rs117958583 0.03463
NM_002860.4(ALDH18A1):c.1246+94T>G rs115728778 0.03460
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03368
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03331
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_002860.4(ALDH18A1):c.934-187A>C rs12267327 0.02370
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02130
NM_002860.4(ALDH18A1):c.-28-213T>A rs78513125 0.01648
NM_002860.4(ALDH18A1):c.808+67G>A rs74150974 0.01581
NM_002860.4(ALDH18A1):c.558+297A>T rs56256708 0.01524
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_002860.4(ALDH18A1):c.1605+111T>C rs72807340 0.01227
NM_002860.4(ALDH18A1):c.1924-234C>G rs546265 0.01004
NM_002860.4(ALDH18A1):c.1467+245C>T rs191350365 0.00894
NM_002860.4(ALDH18A1):c.89-142A>G rs117819105 0.00799
NM_002860.4(ALDH18A1):c.718-151G>T rs75576572 0.00743
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00510
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_002860.4(ALDH18A1):c.559-208G>A rs182106689 0.00471
NM_002860.4(ALDH18A1):c.1605+203C>T rs142553084 0.00424
NM_002860.4(ALDH18A1):c.*292C>T rs78053774 0.00329
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_002860.4(ALDH18A1):c.1152+84A>G rs147367157 0.00322
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=) rs148601288 0.00153
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_002860.4(ALDH18A1):c.-29+10G>A rs571140165 0.00119
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455 0.00109
NM_002860.4(ALDH18A1):c.1467+86T>C rs552316778 0.00098
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=) rs374052426 0.00070
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=) rs150526956 0.00042
NM_002860.4(ALDH18A1):c.*8C>T rs201876082 0.00037
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=) rs150472102 0.00032
NM_002860.4(ALDH18A1):c.1153-13A>G rs370680325 0.00024
NM_002860.4(ALDH18A1):c.1253T>A (p.Leu418His) rs201069261 0.00022
NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala) rs374047257 0.00014
NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser) rs141291042 0.00014
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00013
NM_002860.4(ALDH18A1):c.1946A>G (p.Lys649Arg) rs145197911 0.00011
NM_002860.4(ALDH18A1):c.1248G>A (p.Gly416=) rs757733068 0.00009
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val) rs142712849 0.00009
NM_002860.4(ALDH18A1):c.194G>T (p.Ser65Ile) rs142746793 0.00009
NM_002860.4(ALDH18A1):c.589G>C (p.Glu197Gln) rs201691969 0.00009
NM_002860.4(ALDH18A1):c.-5G>A rs371024575 0.00007
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=) rs200730342 0.00007
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln) rs200452017 0.00007
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg) rs368147360 0.00007
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile) rs192770256 0.00007
NM_002860.4(ALDH18A1):c.1014C>T (p.His338=) rs150056435 0.00006
NM_002860.4(ALDH18A1):c.1624G>A (p.Val542Ile) rs552325165 0.00006
NM_002860.4(ALDH18A1):c.1631A>G (p.Asp544Gly) rs372744264 0.00006
NM_002860.4(ALDH18A1):c.2110+13A>G rs375782465 0.00006
NM_002860.4(ALDH18A1):c.1078+17A>G rs745857450 0.00005
NM_002860.4(ALDH18A1):c.1106T>C (p.Met369Thr) rs145294634 0.00005
NM_002860.4(ALDH18A1):c.1640G>A (p.Arg547His) rs199668897 0.00005
NM_002860.4(ALDH18A1):c.2040C>T (p.Asn680=) rs145806693 0.00005
NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln) rs745614904 0.00004
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met) rs111344269 0.00004
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=) rs369979669 0.00004
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) rs200858692 0.00004
NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys) rs774047299 0.00004
NM_002860.4(ALDH18A1):c.240C>T (p.Ala80=) rs1016828034 0.00004
NM_002860.4(ALDH18A1):c.304-3C>T rs188362786 0.00004
NM_002860.4(ALDH18A1):c.1027A>G (p.Ile343Val) rs371294018 0.00003
NM_002860.4(ALDH18A1):c.1110G>A (p.Ala370=) rs558532112 0.00003
NM_002860.4(ALDH18A1):c.1172A>G (p.His391Arg) rs774081826 0.00003
NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys) rs147348068 0.00003
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser) rs141292408 0.00003
NM_002860.4(ALDH18A1):c.1380C>T (p.Ile460=) rs770247123 0.00003
NM_002860.4(ALDH18A1):c.1417A>G (p.Ile473Val) rs373239891 0.00003
NM_002860.4(ALDH18A1):c.1467+15C>T rs374652686 0.00003
NM_002860.4(ALDH18A1):c.1605+5G>A rs886047510 0.00003
NM_002860.4(ALDH18A1):c.2121G>A (p.Ala707=) rs753837028 0.00003
NM_002860.4(ALDH18A1):c.2176C>T (p.Arg726Cys) rs202169492 0.00003
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) rs773714478 0.00003
NM_002860.4(ALDH18A1):c.61G>T (p.Val21Phe) rs775286160 0.00003
NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg) rs201841420 0.00003
NM_002860.4(ALDH18A1):c.856A>G (p.Ile286Val) rs970950298 0.00003
NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys) rs907590719 0.00002
NM_002860.4(ALDH18A1):c.1358G>A (p.Arg453His) rs765122458 0.00002
NM_002860.4(ALDH18A1):c.1367G>A (p.Arg456His) rs760865106 0.00002
NM_002860.4(ALDH18A1):c.1541G>A (p.Arg514Gln) rs141687744 0.00002
NM_002860.4(ALDH18A1):c.1915G>A (p.Val639Met) rs769158739 0.00002
NM_002860.4(ALDH18A1):c.19C>T (p.Arg7Cys) rs147364066 0.00002
NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met) rs369153920 0.00002
NM_002860.4(ALDH18A1):c.2361C>T (p.Leu787=) rs377506019 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile) rs200172733 0.00002
NM_002860.4(ALDH18A1):c.-28-3C>T rs2139670352 0.00001
NM_002860.4(ALDH18A1):c.-28-4G>C rs2139670360 0.00001
NM_002860.4(ALDH18A1):c.-29_-29+1dup rs1064795755 0.00001
NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe) rs758828421 0.00001
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00001
NM_002860.4(ALDH18A1):c.1274G>C (p.Arg425Pro) rs1413173287 0.00001
NM_002860.4(ALDH18A1):c.1357C>T (p.Arg453Cys) rs1438015555 0.00001
NM_002860.4(ALDH18A1):c.1363T>C (p.Leu455=) rs753823851 0.00001
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp) rs770442555 0.00001
NM_002860.4(ALDH18A1):c.1582G>A (p.Gly528Arg) rs914403045 0.00001
NM_002860.4(ALDH18A1):c.1598T>G (p.Val533Gly) rs796197665 0.00001
NM_002860.4(ALDH18A1):c.1635T>C (p.Leu545=) rs368774840 0.00001
NM_002860.4(ALDH18A1):c.1636T>C (p.Cys546Arg) rs753157831 0.00001
NM_002860.4(ALDH18A1):c.1639C>T (p.Arg547Cys) rs768000771 0.00001
NM_002860.4(ALDH18A1):c.1732G>C (p.Gly578Arg) rs1085307606 0.00001
NM_002860.4(ALDH18A1):c.1797G>C (p.Arg599Ser) rs752764884 0.00001
NM_002860.4(ALDH18A1):c.190C>T (p.Arg64Cys) rs187591541 0.00001
NM_002860.4(ALDH18A1):c.1994G>A (p.Arg665Gln) rs766264810 0.00001
NM_002860.4(ALDH18A1):c.2054T>C (p.Ile685Thr) rs2139530175 0.00001
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys) rs758219423 0.00001
NM_002860.4(ALDH18A1):c.2114A>G (p.Asn705Ser) rs1325485951 0.00001
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys) rs760203992 0.00001
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter) rs1462559161 0.00001
NM_002860.4(ALDH18A1):c.231C>T (p.Leu77=) rs1278292461 0.00001
NM_002860.4(ALDH18A1):c.241G>A (p.Val81Met) rs745914021 0.00001
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His) rs768323248 0.00001
NM_002860.4(ALDH18A1):c.512C>T (p.Ala171Val) rs1268586078 0.00001
NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys) rs201801058 0.00001
NM_002860.4(ALDH18A1):c.599G>A (p.Arg200His) rs746256246 0.00001
NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln) rs757660360 0.00001
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter) rs758543218 0.00001
NM_002860.4(ALDH18A1):c.809-3T>G rs755947818 0.00001
NM_002860.4(ALDH18A1):c.88+1G>A rs556267618 0.00001
NM_002860.4(ALDH18A1):c.966C>T (p.Gly322=) rs754882491 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_002860.4(ALDH18A1):c.-120A>G rs181772739
NM_002860.4(ALDH18A1):c.-29+188_-29+211del rs71034343
NM_002860.4(ALDH18A1):c.-69CG[4] rs200542959
NM_002860.4(ALDH18A1):c.1022C>G (p.Thr341Arg) rs1418361174
NM_002860.4(ALDH18A1):c.1134C>T (p.Ala378=) rs749391185
NM_002860.4(ALDH18A1):c.1153-159_1153-147del rs139646474
NM_002860.4(ALDH18A1):c.121C>G (p.Arg41Gly) rs370450551
NM_002860.4(ALDH18A1):c.1236G>C (p.Glu412Asp) rs2526811323
NM_002860.4(ALDH18A1):c.1247-70del rs766601424
NM_002860.4(ALDH18A1):c.1247-73_1247-70del rs766601424
NM_002860.4(ALDH18A1):c.1247-86_1247-85dup rs766601424
NM_002860.4(ALDH18A1):c.1258G>T (p.Ala420Ser) rs754482244
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His) rs570730665
NM_002860.4(ALDH18A1):c.1370G>T (p.Arg457Leu) rs570730665
NM_002860.4(ALDH18A1):c.1418T>C (p.Ile473Thr) rs2097851609
NM_002860.4(ALDH18A1):c.1445C>T (p.Ser482Phe)
NM_002860.4(ALDH18A1):c.1467+82dup rs75882174
NM_002860.4(ALDH18A1):c.1606-18del rs532582192
NM_002860.4(ALDH18A1):c.1606G>A (p.Val536Met) rs2526730811
NM_002860.4(ALDH18A1):c.1619AAG[1] (p.Glu541del) rs1064796119
NM_002860.4(ALDH18A1):c.1658A>C (p.Asp553Ala)
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.1760A>G (p.Tyr587Cys) rs2097840349
NM_002860.4(ALDH18A1):c.1819G>A (p.Glu607Lys)
NM_002860.4(ALDH18A1):c.1848G>C (p.Glu616Asp) rs2139540256
NM_002860.4(ALDH18A1):c.1864C>T (p.Arg622Trp) rs759267778
NM_002860.4(ALDH18A1):c.1907T>C (p.Met636Thr) rs1051900803
NM_002860.4(ALDH18A1):c.1923+68_1923+80del rs139383145
NM_002860.4(ALDH18A1):c.1924-118T>C rs11188399
NM_002860.4(ALDH18A1):c.1930A>G (p.Ile644Val)
NM_002860.4(ALDH18A1):c.1960C>T (p.Leu654=) rs905973576
NM_002860.4(ALDH18A1):c.1990C>G (p.Leu664Val)
NM_002860.4(ALDH18A1):c.2006G>A (p.Gly669Glu)
NM_002860.4(ALDH18A1):c.2011C>G (p.Leu671Val) rs1064796624
NM_002860.4(ALDH18A1):c.2030T>C (p.Val677Ala) rs2139530313
NM_002860.4(ALDH18A1):c.2041G>A (p.Val681Ile) rs764233894
NM_002860.4(ALDH18A1):c.2081C>T (p.Ser694Phe) rs2526705065
NM_002860.4(ALDH18A1):c.2092G>A (p.Val698Ile)
NM_002860.4(ALDH18A1):c.2095A>G (p.Ile699Val) rs1131691722
NM_002860.4(ALDH18A1):c.2098G>T (p.Val700Phe) rs375705932
NM_002860.4(ALDH18A1):c.20G>C (p.Arg7Pro) rs753553298
NM_002860.4(ALDH18A1):c.2110+71C>G rs2296690
NM_002860.4(ALDH18A1):c.2111-7C>A rs542177817
NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His) rs774916138
NM_002860.4(ALDH18A1):c.2200G>A (p.Gly734Arg) rs2526695904
NM_002860.4(ALDH18A1):c.2207-117A>C rs11592809
NM_002860.4(ALDH18A1):c.2312T>G (p.Val771Gly)
NM_002860.4(ALDH18A1):c.2328G>C (p.Glu776Asp) rs1047715712
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser) rs774047299
NM_002860.4(ALDH18A1):c.265G>A (p.Gly89Ser) rs1085307589
NM_002860.4(ALDH18A1):c.278G>T (p.Gly93Val) rs2139642033
NM_002860.4(ALDH18A1):c.293T>C (p.Ile98Thr) rs2526935195
NM_002860.4(ALDH18A1):c.301C>T (p.Gln101Ter) rs1566039159
NM_002860.4(ALDH18A1):c.34C>G (p.Pro12Ala) rs1354582429
NM_002860.4(ALDH18A1):c.354A>T (p.Gly118=) rs1589544043
NM_002860.4(ALDH18A1):c.385C>G (p.His129Asp)
NM_002860.4(ALDH18A1):c.389A>G (p.Glu130Gly) rs1555263137
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln) rs863225045
NM_002860.4(ALDH18A1):c.475C>T (p.Arg159Ter)
NM_002860.4(ALDH18A1):c.482G>A (p.Cys161Tyr) rs1057518541
NM_002860.4(ALDH18A1):c.558+5G>C rs371725968
NM_002860.4(ALDH18A1):c.583C>A (p.His195Asn) rs2526874046
NM_002860.4(ALDH18A1):c.631C>T (p.Leu211Phe) rs2139609938
NM_002860.4(ALDH18A1):c.67T>C (p.Cys23Arg)
NM_002860.4(ALDH18A1):c.718-187A>G rs3750700
NM_002860.4(ALDH18A1):c.721A>G (p.Ile241Val) rs2526867949
NM_002860.4(ALDH18A1):c.728T>A (p.Val243Asp) rs1555262378
NM_002860.4(ALDH18A1):c.732_737del (p.Lys244_Asp245del) rs2526867772
NM_002860.4(ALDH18A1):c.752C>T (p.Ala251Val) rs2139607865
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002860.4(ALDH18A1):c.760G>T (p.Ala254Ser)
NM_002860.4(ALDH18A1):c.770T>G (p.Met257Arg)
NM_002860.4(ALDH18A1):c.809-1G>A rs1202802893
NM_002860.4(ALDH18A1):c.839A>T (p.Asp280Val) rs981914821
NM_002860.4(ALDH18A1):c.83G>C (p.Arg28Thr) rs2492634590
NM_002860.4(ALDH18A1):c.922A>G (p.Met308Val)
NM_002860.4(ALDH18A1):c.934G>A (p.Val312Met) rs1390507818
NM_002860.4(ALDH18A1):c.945C>T (p.Ala315=) rs566528582
NM_002860.4(ALDH18A1):c.957G>C (p.Leu319Phe)

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