ClinVar Miner

List of variants in gene ALDOA, LOC112694756 studied for HNSHA due to aldolase A deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 241
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001243177.4(ALDOA):c.142-63G>C rs9783783 0.51663
NM_001243177.4(ALDOA):c.1161+17G>T rs2071390 0.14716
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01132
NM_001243177.4(ALDOA):c.542-16C>A rs78124282 0.00797
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00347
NM_001243177.4(ALDOA):c.*136C>T rs191226606 0.00251
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00248
NM_001243177.4(ALDOA):c.274+4C>T rs200278984 0.00204
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_001243177.4(ALDOA):c.787-20G>A rs75559164 0.00072
NM_001243177.4(ALDOA):c.471T>A (p.Gly157=) rs142231603 0.00058
NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=) rs143419532 0.00046
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys) rs374042346 0.00025
NM_001243177.4(ALDOA):c.962-20G>A rs189723657 0.00025
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_001243177.4(ALDOA):c.*96C>T rs886051897 0.00021
NM_001243177.4(ALDOA):c.426G>A (p.Ala142=) rs772550893 0.00019
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser) rs142957871 0.00019
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) rs200761497 0.00018
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu) rs140201659 0.00017
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr) rs144693278 0.00016
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile) rs142759891 0.00015
NM_001243177.4(ALDOA):c.961+12A>G rs200733968 0.00014
NM_001243177.4(ALDOA):c.*76C>T rs886051896 0.00013
NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn) rs201468609 0.00011
NM_001243177.4(ALDOA):c.1162-16C>T rs369822049 0.00010
NM_001243177.4(ALDOA):c.*72T>G rs886051895 0.00009
NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile) rs550915077 0.00009
NM_001243177.4(ALDOA):c.*101G>A rs539833998 0.00008
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr) rs766734350 0.00007
NM_001243177.4(ALDOA):c.275-5C>T rs752764982 0.00007
NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu) rs199655729 0.00007
NM_001243177.4(ALDOA):c.720C>T (p.Ile240=) rs573479181 0.00007
NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile) rs368207656 0.00007
NM_001243177.4(ALDOA):c.1002G>A (p.Ala334=) rs532473202 0.00006
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=) rs142315181 0.00006
NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=) rs745518404 0.00006
NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val) rs1239332534 0.00006
NM_001243177.4(ALDOA):c.1161+8T>C rs751467136 0.00005
NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=) rs1061406 0.00005
NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr) rs150003720 0.00005
NM_001243177.4(ALDOA):c.382A>C (p.Ile128Leu) rs747788394 0.00005
NM_001243177.4(ALDOA):c.499G>A (p.Val167Met) rs148193398 0.00005
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=) rs150741747 0.00005
NM_001243177.4(ALDOA):c.703-9G>A rs186785222 0.00005
NM_001243177.4(ALDOA):c.962-2dup rs775439610 0.00005
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=) rs749551179 0.00005
NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr) rs763532944 0.00004
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys) rs146976414 0.00004
NM_001243177.4(ALDOA):c.921C>T (p.Thr307=) rs148503847 0.00004
NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val) rs201658390 0.00004
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser) rs148828956 0.00003
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys) rs375546208 0.00003
NM_001243177.4(ALDOA):c.1248C>T (p.His416=) rs753739488 0.00003
NM_001243177.4(ALDOA):c.189C>T (p.Thr63=) rs188898200 0.00003
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=) rs773402743 0.00003
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys) rs145582724 0.00003
NM_001243177.4(ALDOA):c.487-9C>T rs1057523259 0.00003
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=) rs751360534 0.00003
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala) rs762881835 0.00003
NM_001243177.4(ALDOA):c.945G>C (p.Val315=) rs780658545 0.00003
NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=) rs554392023 0.00002
NM_001243177.4(ALDOA):c.184C>T (p.Leu62=) rs1163749559 0.00002
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val) rs1385792025 0.00002
NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys) rs776187312 0.00002
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu) rs570385246 0.00002
NM_001243177.4(ALDOA):c.498C>T (p.Gly166=) rs145811469 0.00002
NM_001243177.4(ALDOA):c.525C>T (p.Gly175=) rs781380448 0.00002
NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys) rs11553113 0.00002
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=) rs758499704 0.00002
NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr) rs761705909 0.00002
NM_001243177.4(ALDOA):c.702+20A>G rs367545015 0.00002
NM_001243177.4(ALDOA):c.702+8T>C rs894358000 0.00002
NM_001243177.4(ALDOA):c.703-10C>T rs1184028874 0.00002
NM_001243177.4(ALDOA):c.787-17C>T rs367758674 0.00002
NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys) rs1417726499 0.00002
NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=) rs546577561 0.00002
NM_001243177.4(ALDOA):c.807G>T (p.Lys269Asn) rs1455309434 0.00002
NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=) rs772908246 0.00001
NM_001243177.4(ALDOA):c.1032C>T (p.Cys344=) rs767840312 0.00001
NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=) rs889500566 0.00001
NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser) rs746068220 0.00001
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu) rs769327341 0.00001
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr) rs886051894 0.00001
NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro) rs146116144 0.00001
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) rs530089317 0.00001
NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln) rs1329509300 0.00001
NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=) rs2072268581 0.00001
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs) rs2543619034 0.00001
NM_001243177.4(ALDOA):c.1161+9A>T rs370179626 0.00001
NM_001243177.4(ALDOA):c.1233C>T (p.Leu411=) rs3169548 0.00001
NM_001243177.4(ALDOA):c.217A>G (p.Ile73Val) rs929389001 0.00001
NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu) rs545350470 0.00001
NM_001243177.4(ALDOA):c.274+5G>A rs774939475 0.00001
NM_001243177.4(ALDOA):c.275-11G>C rs942450539 0.00001
NM_001243177.4(ALDOA):c.275-9C>G rs1182078816 0.00001
NM_001243177.4(ALDOA):c.309C>T (p.Thr103=) rs758280973 0.00001
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=) rs779556052 0.00001
NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala) rs746453321 0.00001
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys) rs199852002 0.00001
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly) rs1435674040 0.00001
NM_001243177.4(ALDOA):c.368G>A (p.Arg123His) rs752587498 0.00001
NM_001243177.4(ALDOA):c.396C>T (p.Ile132=) rs1192404265 0.00001
NM_001243177.4(ALDOA):c.408G>A (p.Glu136=) rs2072165192 0.00001
NM_001243177.4(ALDOA):c.423G>A (p.Lys141=) rs879086664 0.00001
NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser) rs762797482 0.00001
NM_001243177.4(ALDOA):c.486+10G>A rs763974400 0.00001
NM_001243177.4(ALDOA):c.486+18G>A rs780522360 0.00001
NM_001243177.4(ALDOA):c.487-19G>A rs777791032 0.00001
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser) rs771740082 0.00001
NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu) rs753336912 0.00001
NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp) rs775705038 0.00001
NM_001243177.4(ALDOA):c.541+8C>T rs950605723 0.00001
NM_001243177.4(ALDOA):c.542-3T>C rs113090361 0.00001
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His) rs778814633 0.00001
NM_001243177.4(ALDOA):c.572A>T (p.Gln191Leu) rs1283845684 0.00001
NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=) rs758491170 0.00001
NM_001243177.4(ALDOA):c.597C>T (p.Phe199=) rs769378422 0.00001
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=) rs765883841 0.00001
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val) rs1463243958 0.00001
NM_001243177.4(ALDOA):c.702+17T>C rs181606186 0.00001
NM_001243177.4(ALDOA):c.703-12C>T rs745528292 0.00001
NM_001243177.4(ALDOA):c.703-7C>T rs775117761 0.00001
NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys) rs372394541 0.00001
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His) rs534264493 0.00001
NM_001243177.4(ALDOA):c.780C>T (p.Thr260=) rs1173353127 0.00001
NM_001243177.4(ALDOA):c.786+11A>G rs559067753 0.00001
NM_001243177.4(ALDOA):c.786+2T>C rs892947296 0.00001
NM_001243177.4(ALDOA):c.787-12G>C rs930102805 0.00001
NM_001243177.4(ALDOA):c.787-2A>G rs1340894214 0.00001
NM_001243177.4(ALDOA):c.787-4C>T rs878939622 0.00001
NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val) rs754601084 0.00001
NM_001243177.4(ALDOA):c.821A>G (p.His274Arg) rs760807537 0.00001
NM_001243177.4(ALDOA):c.876T>G (p.His292Gln) rs757739728 0.00001
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr) rs886051893 0.00001
NM_001243177.4(ALDOA):c.912C>T (p.Ala304=) rs1171957249 0.00001
NM_001243177.4(ALDOA):c.918G>A (p.Ala306=) rs761982199 0.00001
NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys) rs752431778 0.00001
NM_001243177.4(ALDOA):c.935G>A (p.Arg312His) rs151069138 0.00001
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys) rs779421883 0.00001
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp) rs565013143 0.00001
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=) rs2543617748
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser) rs879255334
NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr) rs1283651383
NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=) rs147612848
NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=) rs147612848
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val) rs1445975674
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg) rs761836264
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr) rs2543618990
NM_001243177.4(ALDOA):c.1161+14G>T
NM_001243177.4(ALDOA):c.1161+15G>A
NM_001243177.4(ALDOA):c.1161+9_1161+19dup rs2543619096
NM_001243177.4(ALDOA):c.1162-11T>C rs373974067
NM_001243177.4(ALDOA):c.1162-14C>A rs781001864
NM_001243177.4(ALDOA):c.1162-14C>T rs781001864
NM_001243177.4(ALDOA):c.1162-17C>T rs2072271736
NM_001243177.4(ALDOA):c.1162-18A>T rs2543619470
NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr) rs756734032
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val) rs778572895
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr) rs2151019809
NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu) rs1421338770
NM_001243177.4(ALDOA):c.1199G>T (p.Ser400Ile)
NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly) rs1261199026
NM_001243177.4(ALDOA):c.1239C>T (p.Val413=)
NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val) rs778342113
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=) rs2072147536
NM_001243177.4(ALDOA):c.183A>G (p.Ala61=)
NM_001243177.4(ALDOA):c.246G>A (p.Lys82=)
NM_001243177.4(ALDOA):c.273T>G (p.Thr91=) rs2151015694
NM_001243177.4(ALDOA):c.274+3G>A
NM_001243177.4(ALDOA):c.275-15A>G rs1297553727
NM_001243177.4(ALDOA):c.275-3del rs1453470778
NM_001243177.4(ALDOA):c.288G>A (p.Lys96=) rs934971125
NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp) rs757047929
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln) rs549146709
NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro) rs549146709
NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe) rs1479838470
NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr) rs2543602639
NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile) rs1343304938
NM_001243177.4(ALDOA):c.318C>A (p.Thr106=)
NM_001243177.4(ALDOA):c.318C>T (p.Thr106=) rs768153334
NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys) rs2543602920
NM_001243177.4(ALDOA):c.346C>T (p.Leu116=)
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs) rs762619360
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del) rs1475604530
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His) rs201468609
NM_001243177.4(ALDOA):c.383T>C (p.Ile128Thr)
NM_001243177.4(ALDOA):c.400T>C (p.Phe134Leu) rs2151016133
NM_001243177.4(ALDOA):c.404dup (p.His135fs)
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His) rs747482925
NM_001243177.4(ALDOA):c.447C>T (p.Pro149=) rs1333749052
NM_001243177.4(ALDOA):c.462C>T (p.Ser154=) rs2072169171
NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys) rs2543604143
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile) rs2072169825
NM_001243177.4(ALDOA):c.486+14C>T
NM_001243177.4(ALDOA):c.486+16C>T rs748925881
NM_001243177.4(ALDOA):c.486+17C>G rs78209292
NM_001243177.4(ALDOA):c.486+17C>T rs78209292
NM_001243177.4(ALDOA):c.486+19G>A rs2072171718
NM_001243177.4(ALDOA):c.486+9A>C rs2543604391
NM_001243177.4(ALDOA):c.487-10A>G
NM_001243177.4(ALDOA):c.487-14C>T rs1045904834
NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp) rs1212631216
NM_001243177.4(ALDOA):c.541+17del rs886051891
NM_001243177.4(ALDOA):c.541+18C>G
NM_001243177.4(ALDOA):c.548A>G (p.Asp183Gly) rs121909533
NM_001243177.4(ALDOA):c.552G>C (p.Gly184=) rs1456118718
NM_001243177.4(ALDOA):c.582G>A (p.Lys194=) rs746865548
NM_001243177.4(ALDOA):c.588A>C (p.Gly196=) rs776760013
NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp) rs748069154
NM_001243177.4(ALDOA):c.630A>G (p.Glu210=) rs1242243725
NM_001243177.4(ALDOA):c.636C>T (p.Thr212=) rs1243561565
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly) rs886051892
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His) rs769563671
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=) rs1596813728
NM_001243177.4(ALDOA):c.698A>T (p.Gln233Leu) rs2151018036
NM_001243177.4(ALDOA):c.702+12G>A rs2072220280
NM_001243177.4(ALDOA):c.702+1G>A
NM_001243177.4(ALDOA):c.702+3G>A rs2072219927
NM_001243177.4(ALDOA):c.702+7C>T rs2072220073
NM_001243177.4(ALDOA):c.703-16dup
NM_001243177.4(ALDOA):c.721G>A (p.Val241Met) rs1335840967
NM_001243177.4(ALDOA):c.729T>C (p.Pro243=) rs2543613661
NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys) rs121909534
NM_001243177.4(ALDOA):c.787-19T>C
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=) rs764984222
NM_001243177.4(ALDOA):c.867C>T (p.Thr289=) rs1159829609
NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile) rs944420954
NM_001243177.4(ALDOA):c.900T>C (p.His300=) rs2151018864
NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu) rs142759891
NM_001243177.4(ALDOA):c.951C>A (p.Pro317=) rs747443135
NM_001243177.4(ALDOA):c.951del (p.Ala318fs) rs773601711
NM_001243177.4(ALDOA):c.961+15C>T rs2543616496
NM_001243177.4(ALDOA):c.961+17T>C rs566755208
NM_001243177.4(ALDOA):c.962-11C>T
NM_001243177.4(ALDOA):c.962-14C>T
NM_001243177.4(ALDOA):c.962-7T>G rs768071615
NM_001243177.4(ALDOA):c.962-8C>T rs1355492982
NM_001243177.4(ALDOA):c.963G>C (p.Gly321=) rs147193284
NM_001243177.4(ALDOA):c.984C>T (p.Gly328=)

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.