ClinVar Miner

List of variants studied for HNSHA due to aldolase A deficiency

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Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_001365304.2(LOC112694756):c.*489-63G>C rs9783783 0.52268
NM_001365304.2(LOC112694756):c.*1508+17G>T rs2071390 0.13976
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_001365304.2(LOC112694756):c.*889-16C>A rs78124282 0.00797
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_001365304.2(LOC112694756):c.*1740C>T rs191226606 0.00274
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_001365304.2(LOC112694756):c.*621+4C>T rs200278984 0.00204
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_001365304.2(LOC112694756):c.*1134-20G>A rs75559164 0.00071
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_001365304.2(LOC112694756):c.*1309-20G>A rs189723657 0.00025
NM_001365304.2(LOC112694756):c.*1700C>T rs886051897 0.00024
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) rs200761497 0.00019
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.898C>T (p.His300Tyr) rs144693278 0.00016
NM_001365304.2(LOC112694756):c.*1308+12A>G rs200733968 0.00014
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile) rs142759891 0.00013
NM_001365304.2(LOC112694756):c.*1680C>T rs886051896 0.00013
NM_001365304.2(LOC112694756):c.*1676T>G rs886051895 0.00009
NM_001365304.2(LOC112694756):c.*1705G>A rs539833998 0.00009
NM_001365304.2(LOC112694756):c.*622-5C>T rs752764982 0.00008
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr) rs766734350 0.00007
NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile) rs368207656 0.00007
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=) rs142315181 0.00006
NM_001243177.4(ALDOA):c.382A>C (p.Ile128Leu) rs747788394 0.00006
NM_001243177.4(ALDOA):c.1002G>A (p.Ala334=) rs532473202 0.00005
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys) rs146976414 0.00005
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=) rs150741747 0.00005
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=) rs779556052 0.00004
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=) rs751360534 0.00004
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=) rs765883841 0.00004
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His) rs534264493 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_001365304.2(LOC112694756):c.*1508+8T>C rs751467136 0.00004
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser) rs148828956 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.945G>C (p.Val315=) rs780658545 0.00003
NM_001365304.2(LOC112694756):c.*834-9C>T rs1057523259 0.00003
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.597C>T (p.Phe199=) rs769378422 0.00002
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=) rs758499704 0.00002
NM_001243177.4(ALDOA):c.807G>T (p.Lys269Asn) rs1455309434 0.00002
NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser) rs746068220 0.00001
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr) rs886051894 0.00001
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) rs530089317 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.309C>T (p.Thr103=) rs758280973 0.00001
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys) rs199852002 0.00001
NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys) rs776187312 0.00001
NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp) rs775705038 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.644C>T (p.Ala215Val) rs1463243958 0.00001
NM_001243177.4(ALDOA):c.720C>T (p.Ile240=) rs573479181 0.00001
NM_001243177.4(ALDOA):c.821A>G (p.His274Arg) rs760807537 0.00001
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr) rs886051893 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_001365304.2(LOC112694756):c.*621+5G>A rs774939475 0.00001
NC_000016.9:g.(?_29802081)_(30199917_?)del
NC_000016.9:g.(?_29802081)_(30199917_?)dup
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=)
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)
NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=)
NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr)
NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=)
NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=)
NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=)
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)
NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro)
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)
NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln)
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)
NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=)
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)
NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr) rs2151019809
NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu)
NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly) rs1261199026
NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=)
NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=)
NM_001243177.4(ALDOA):c.1248C>T (p.His416=)
NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val)
NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=)
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=) rs2072147536
NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr)
NM_001243177.4(ALDOA):c.184C>T (p.Leu62=)
NM_001243177.4(ALDOA):c.189C>T (p.Thr63=)
NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr)
NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu)
NM_001243177.4(ALDOA):c.273T>G (p.Thr91=) rs2151015694
NM_001243177.4(ALDOA):c.288G>A (p.Lys96=)
NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp)
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln) rs549146709
NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro)
NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe)
NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr)
NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala)
NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile)
NM_001243177.4(ALDOA):c.318C>T (p.Thr106=)
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)
NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys)
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn)
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His) rs201468609
NM_001243177.4(ALDOA):c.368G>A (p.Arg123His)
NM_001243177.4(ALDOA):c.396C>T (p.Ile132=)
NM_001243177.4(ALDOA):c.400T>C (p.Phe134Leu) rs2151016133
NM_001243177.4(ALDOA):c.408G>A (p.Glu136=)
NM_001243177.4(ALDOA):c.423G>A (p.Lys141=)
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His) rs747482925
NM_001243177.4(ALDOA):c.447C>T (p.Pro149=)
NM_001243177.4(ALDOA):c.462C>T (p.Ser154=)
NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys)
NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser)
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile) rs2072169825
NM_001243177.4(ALDOA):c.499G>A (p.Val167Met)
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu)
NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp)
NM_001243177.4(ALDOA):c.525C>T (p.Gly175=)
NM_001243177.4(ALDOA):c.548A>G (p.Asp183Gly) rs121909533
NM_001243177.4(ALDOA):c.552G>C (p.Gly184=)
NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys)
NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=)
NM_001243177.4(ALDOA):c.582G>A (p.Lys194=)
NM_001243177.4(ALDOA):c.588A>C (p.Gly196=)
NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp)
NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu)
NM_001243177.4(ALDOA):c.630A>G (p.Glu210=)
NM_001243177.4(ALDOA):c.636C>T (p.Thr212=)
NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr)
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly) rs886051892
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)
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.721G>A (p.Val241Met)
NM_001243177.4(ALDOA):c.729T>C (p.Pro243=)
NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val)
NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys)
NM_001243177.4(ALDOA):c.780C>T (p.Thr260=)
NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys) rs121909534
NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val)
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys)
NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=)
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)
NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile)
NM_001243177.4(ALDOA):c.867C>T (p.Thr289=)
NM_001243177.4(ALDOA):c.876T>G (p.His292Gln)
NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile)
NM_001243177.4(ALDOA):c.900T>C (p.His300=)
NM_001243177.4(ALDOA):c.912C>T (p.Ala304=)
NM_001243177.4(ALDOA):c.918G>A (p.Ala306=)
NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu)
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys)
NM_001243177.4(ALDOA):c.935G>A (p.Arg312His)
NM_001243177.4(ALDOA):c.951C>A (p.Pro317=)
NM_001243177.4(ALDOA):c.951del (p.Ala318fs)
NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
NM_001365304.2(LOC112694756):c.*1049+12G>A
NM_001365304.2(LOC112694756):c.*1049+17T>C
NM_001365304.2(LOC112694756):c.*1049+20A>G
NM_001365304.2(LOC112694756):c.*1049+3G>A rs2072219927
NM_001365304.2(LOC112694756):c.*1049+7C>T
NM_001365304.2(LOC112694756):c.*1049+8T>C
NM_001365304.2(LOC112694756):c.*1050-10C>T
NM_001365304.2(LOC112694756):c.*1050-12C>T
NM_001365304.2(LOC112694756):c.*1050-7C>T
NM_001365304.2(LOC112694756):c.*1050-9G>A
NM_001365304.2(LOC112694756):c.*1133+11A>G
NM_001365304.2(LOC112694756):c.*1133+2T>C
NM_001365304.2(LOC112694756):c.*1134-12G>C
NM_001365304.2(LOC112694756):c.*1134-17C>T
NM_001365304.2(LOC112694756):c.*1134-2A>G
NM_001365304.2(LOC112694756):c.*1134-4C>T
NM_001365304.2(LOC112694756):c.*1308+15C>T
NM_001365304.2(LOC112694756):c.*1308+17T>C rs566755208
NM_001365304.2(LOC112694756):c.*1309-2dup
NM_001365304.2(LOC112694756):c.*1309-7T>G
NM_001365304.2(LOC112694756):c.*1309-8C>T
NM_001365304.2(LOC112694756):c.*1508+9A>T
NM_001365304.2(LOC112694756):c.*1508+9_*1508+19dup
NM_001365304.2(LOC112694756):c.*1509-11T>C
NM_001365304.2(LOC112694756):c.*1509-14C>A
NM_001365304.2(LOC112694756):c.*1509-14C>T
NM_001365304.2(LOC112694756):c.*1509-16C>T
NM_001365304.2(LOC112694756):c.*1509-17C>T
NM_001365304.2(LOC112694756):c.*1509-18A>T
NM_001365304.2(LOC112694756):c.*622-11G>C
NM_001365304.2(LOC112694756):c.*622-15A>G
NM_001365304.2(LOC112694756):c.*622-3del
NM_001365304.2(LOC112694756):c.*622-9C>G
NM_001365304.2(LOC112694756):c.*833+10G>A
NM_001365304.2(LOC112694756):c.*833+16C>T
NM_001365304.2(LOC112694756):c.*833+17C>G rs78209292
NM_001365304.2(LOC112694756):c.*833+17C>T
NM_001365304.2(LOC112694756):c.*833+18G>A
NM_001365304.2(LOC112694756):c.*833+19G>A
NM_001365304.2(LOC112694756):c.*833+9A>C
NM_001365304.2(LOC112694756):c.*834-14C>T
NM_001365304.2(LOC112694756):c.*834-19G>A
NM_001365304.2(LOC112694756):c.*888+17del rs886051891
NM_001365304.2(LOC112694756):c.*888+8C>T
NM_001365304.2(LOC112694756):c.*889-3T>C

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