ClinVar Miner

List of variants studied for alkaptonuria by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 304
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HGVS dbSNP gnomAD frequency
NM_000187.4(HGD):c.240A>T (p.Gln80His) rs2255543 0.75354
NM_000187.4(HGD):c.879+18A>G rs1800700 0.03754
NM_000187.4(HGD):c.1191A>C (p.Ala397=) rs137923025 0.02463
NM_000187.4(HGD):c.372C>T (p.Asp124=) rs140977117 0.02164
NM_000187.4(HGD):c.1221G>A (p.Ala407=) rs146206905 0.01639
NM_000187.4(HGD):c.142G>T (p.Ala48Ser) rs138846036 0.01021
NM_000187.4(HGD):c.650-85A>G rs2075504 0.00999
NM_000187.4(HGD):c.1179T>C (p.Asp393=) rs146482816 0.00886
NM_000187.4(HGD):c.283-4C>T rs7652072 0.00530
NM_000187.4(HGD):c.260A>C (p.Glu87Ala) rs35702995 0.00416
NM_000187.4(HGD):c.711C>A (p.Arg237=) rs147204182 0.00302
NM_000187.4(HGD):c.129G>A (p.Gln43=) rs142789485 0.00165
NM_000187.4(HGD):c.919C>T (p.Arg307Cys) rs143556739 0.00124
NM_000187.4(HGD):c.1128C>G (p.Asp376Glu) rs150145204 0.00060
NM_000187.4(HGD):c.360T>C (p.Cys120=) rs149165166 0.00054
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173 0.00031
NM_000187.4(HGD):c.221A>T (p.Glu74Val) rs141965690 0.00027
NM_000187.4(HGD):c.8A>C (p.Glu3Ala) rs200412910 0.00022
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783 0.00016
NM_000187.4(HGD):c.1176C>T (p.Ala392=) rs368805723 0.00013
NM_000187.4(HGD):c.231C>T (p.Asp77=) rs147017317 0.00013
NM_000187.4(HGD):c.1112A>G (p.His371Arg) rs120074172 0.00012
NM_000187.4(HGD):c.141G>A (p.Ser47=) rs541268108 0.00011
NM_000187.4(HGD):c.752G>A (p.Gly251Asp) rs781011621 0.00011
NM_000187.4(HGD):c.111C>T (p.Tyr37=) rs772792095 0.00010
NM_000187.4(HGD):c.1080G>A (p.Gly360=) rs752713602 0.00009
NM_000187.4(HGD):c.1206A>G (p.Ser402=) rs140500816 0.00009
NM_000187.4(HGD):c.993T>C (p.Pro331=) rs747288180 0.00009
NM_000187.4(HGD):c.969G>A (p.Gly323=) rs376724242 0.00008
NM_000187.4(HGD):c.125A>C (p.Glu42Ala) rs373921680 0.00007
NM_000187.4(HGD):c.158G>A (p.Arg53Gln) rs200808744 0.00006
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641 0.00006
NM_000187.4(HGD):c.501C>T (p.Thr167=) rs146878140 0.00006
NM_000187.4(HGD):c.550-14G>C rs769000073 0.00006
NM_000187.4(HGD):c.786G>A (p.Pro262=) rs747648606 0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174 0.00006
NM_000187.4(HGD):c.396T>A (p.Ala132=) rs768585616 0.00005
NM_000187.4(HGD):c.1027A>C (p.Met343Leu) rs755078457 0.00004
NM_000187.4(HGD):c.16-1G>A rs397515347 0.00004
NM_000187.4(HGD):c.177-5T>C rs768308376 0.00004
NM_000187.4(HGD):c.24T>C (p.Ser8=) rs745386219 0.00004
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000187.4(HGD):c.359G>T (p.Cys120Phe) rs752153829 0.00004
NM_000187.4(HGD):c.502G>A (p.Glu168Lys) rs375283568 0.00004
NM_000187.4(HGD):c.6T>A (p.Ala2=) rs1308413187 0.00004
NM_000187.4(HGD):c.807C>T (p.His269=) rs758567130 0.00004
NM_000187.4(HGD):c.477G>A (p.Gln159=) rs1351109217 0.00003
NM_000187.4(HGD):c.688C>T (p.Pro230Ser) rs28942100 0.00003
NM_000187.4(HGD):c.709C>T (p.Arg237Cys) rs1171237852 0.00003
NM_000187.4(HGD):c.765T>C (p.Ala255=) rs747764475 0.00003
NM_000187.4(HGD):c.990G>T (p.Arg330Ser) rs120074171 0.00003
NM_000187.4(HGD):c.1305T>C (p.Thr435=) rs571129573 0.00002
NM_000187.4(HGD):c.342+1G>T rs397515518 0.00002
NM_000187.4(HGD):c.367G>A (p.Gly123Arg) rs564979861 0.00002
NM_000187.4(HGD):c.469+2T>C rs745333667 0.00002
NM_000187.4(HGD):c.58C>T (p.Arg20Cys) rs755454185 0.00002
NM_000187.4(HGD):c.732G>A (p.Thr244=) rs769516009 0.00002
NM_000187.4(HGD):c.1007-2A>T rs1559781702 0.00001
NM_000187.4(HGD):c.1078G>C (p.Gly360Arg) rs368717991 0.00001
NM_000187.4(HGD):c.1107C>A (p.Thr369=) rs1165278353 0.00001
NM_000187.4(HGD):c.1110C>A (p.Pro370=) rs760307527 0.00001
NM_000187.4(HGD):c.1188+1G>A rs760206323 0.00001
NM_000187.4(HGD):c.11T>A (p.Leu4Ter) rs786204422 0.00001
NM_000187.4(HGD):c.120T>C (p.Tyr40=) rs369064890 0.00001
NM_000187.4(HGD):c.1335T>C (p.Asn445=) rs187614203 0.00001
NM_000187.4(HGD):c.157C>T (p.Arg53Trp) rs759435977 0.00001
NM_000187.4(HGD):c.168T>C (p.Asn56=) rs773277281 0.00001
NM_000187.4(HGD):c.27A>T (p.Gly9=) rs780784207 0.00001
NM_000187.4(HGD):c.288A>G (p.Arg96=) rs776344570 0.00001
NM_000187.4(HGD):c.291G>A (p.Trp97Ter) rs766714128 0.00001
NM_000187.4(HGD):c.307C>A (p.Pro103Thr) rs559502955 0.00001
NM_000187.4(HGD):c.327A>G (p.Lys109=) rs774514092 0.00001
NM_000187.4(HGD):c.343-5C>T rs779590565 0.00001
NM_000187.4(HGD):c.343G>C (p.Gly115Arg) rs755734596 0.00001
NM_000187.4(HGD):c.390G>T (p.Gly130=) rs774183442 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000187.4(HGD):c.540C>T (p.Cys180=) rs1447439273 0.00001
NM_000187.4(HGD):c.561G>A (p.Arg187=) rs1436826620 0.00001
NM_000187.4(HGD):c.612T>C (p.Tyr204=) rs765182260 0.00001
NM_000187.4(HGD):c.673C>T (p.Arg225Cys) rs756789146 0.00001
NM_000187.4(HGD):c.674G>A (p.Arg225His) rs562853291 0.00001
NM_000187.4(HGD):c.682T>C (p.Leu228=) rs1282585373 0.00001
NM_000187.4(HGD):c.702T>C (p.Tyr234=) rs771518151 0.00001
NM_000187.4(HGD):c.710G>A (p.Arg237His) rs866509210 0.00001
NM_000187.4(HGD):c.810G>A (p.Gly270=) rs1940985320 0.00001
NM_000187.4(HGD):c.816T>C (p.Tyr272=) rs1036188406 0.00001
NM_000187.4(HGD):c.821C>T (p.Pro274Leu) rs1397264922 0.00001
NM_000187.4(HGD):c.834C>T (p.Asn278=) rs1194280787 0.00001
NM_000187.4(HGD):c.879+9G>T rs915477284 0.00001
NM_000187.4(HGD):c.880-5C>T rs746239685 0.00001
NM_000187.4(HGD):c.912G>A (p.Lys304=) rs1189623213 0.00001
NM_000187.4(HGD):c.915T>C (p.Ser305=) rs144158342 0.00001
NM_000187.4(HGD):c.967G>A (p.Gly323Arg) rs762564483 0.00001
NC_000003.11:g.(?_120365818)_(133465047_?)del
NC_000003.12:g.(?_120633127)_(120633348_?)del
NC_000003.12:g.(?_120647857)_(120647931_?)del
NM_000187.3(HGD):c.651_652delGG rs786204662
NM_000187.4(HGD):c.1006+2T>A rs1320184173
NM_000187.4(HGD):c.1006+9C>T
NM_000187.4(HGD):c.1007-18C>T
NM_000187.4(HGD):c.1007-3del rs1261269370
NM_000187.4(HGD):c.100del (p.Val34fs)
NM_000187.4(HGD):c.1039C>T (p.Arg347Ter) rs975005146
NM_000187.4(HGD):c.1040G>A (p.Arg347Gln)
NM_000187.4(HGD):c.105C>A (p.Cys35Ter)
NM_000187.4(HGD):c.1061A>C (p.Gln354Pro)
NM_000187.4(HGD):c.1061A>G (p.Gln354Arg)
NM_000187.4(HGD):c.1068G>A (p.Gly356=) rs1940648400
NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)
NM_000187.4(HGD):c.1080G>C (p.Gly360=) rs752713602
NM_000187.4(HGD):c.1097G>A (p.Ser366Asn)
NM_000187.4(HGD):c.1098C>T (p.Ser366=)
NM_000187.4(HGD):c.109T>G (p.Tyr37Asp)
NM_000187.4(HGD):c.1110C>T (p.Pro370=)
NM_000187.4(HGD):c.1111del (p.His371fs) rs397515516
NM_000187.4(HGD):c.1112dup (p.His371fs)
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg) rs1940645842
NM_000187.4(HGD):c.1120G>C (p.Asp374His) rs981454067
NM_000187.4(HGD):c.1131C>A (p.Cys377Ter)
NM_000187.4(HGD):c.1157_1160del (p.Leu386fs)
NM_000187.4(HGD):c.1162C>T (p.Pro388Ser)
NM_000187.4(HGD):c.1185del (p.Met396fs) rs2107489196
NM_000187.4(HGD):c.1188+1G>T rs760206323
NM_000187.4(HGD):c.1188+2T>A
NM_000187.4(HGD):c.1188+7A>T
NM_000187.4(HGD):c.1188+8T>C rs1940642048
NM_000187.4(HGD):c.1189-14G>A
NM_000187.4(HGD):c.1189-20C>G
NM_000187.4(HGD):c.1189-8T>A rs2107483848
NM_000187.4(HGD):c.1191A>G (p.Ala397=)
NM_000187.4(HGD):c.11T>C (p.Leu4Ser) rs786204422
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln) rs767159114
NM_000187.4(HGD):c.1230G>A (p.Lys410=)
NM_000187.4(HGD):c.1242G>A (p.Lys414=)
NM_000187.4(HGD):c.1245del (p.Ser416fs) rs2107483736
NM_000187.4(HGD):c.1248C>T (p.Ser416=) rs2107483728
NM_000187.4(HGD):c.1249A>C (p.Arg417=)
NM_000187.4(HGD):c.1269C>A (p.Tyr423Ter) rs1186509068
NM_000187.4(HGD):c.1275G>A (p.Lys425=)
NM_000187.4(HGD):c.1287A>T (p.Pro429=) rs2107483639
NM_000187.4(HGD):c.1288del (p.Leu430fs) rs2107483632
NM_000187.4(HGD):c.1290C>T (p.Leu430=) rs2107483622
NM_000187.4(HGD):c.1290_1300del (p.Lys431fs) rs1553715351
NM_000187.4(HGD):c.1299C>T (p.His433=) rs2107483607
NM_000187.4(HGD):c.1314C>T (p.Ser438=)
NM_000187.4(HGD):c.1320C>T (p.Asn440=)
NM_000187.4(HGD):c.132C>T (p.Leu44=) rs1413985635
NM_000187.4(HGD):c.1332T>C (p.Pro444=)
NM_000187.4(HGD):c.133del (p.Ser45fs)
NM_000187.4(HGD):c.15+15G>A
NM_000187.4(HGD):c.15+16A>T
NM_000187.4(HGD):c.15+1G>A rs552207335
NM_000187.4(HGD):c.15+8del rs771784891
NM_000187.4(HGD):c.164_166del (p.Thr55del) rs1708093744
NM_000187.4(HGD):c.165C>T (p.Thr55=)
NM_000187.4(HGD):c.175del (p.Ser59fs) rs397515517
NM_000187.4(HGD):c.176+13G>C
NM_000187.4(HGD):c.176+14A>T
NM_000187.4(HGD):c.177-14_177-11del
NM_000187.4(HGD):c.177-16A>G
NM_000187.4(HGD):c.177-17T>C
NM_000187.4(HGD):c.177-18G>C
NM_000187.4(HGD):c.177-19T>C
NM_000187.4(HGD):c.177-1G>T
NM_000187.4(HGD):c.177-4C>T
NM_000187.4(HGD):c.177-9T>C rs2107548928
NM_000187.4(HGD):c.179G>A (p.Trp60Ter) rs1057516467
NM_000187.4(HGD):c.186T>C (p.Tyr62=)
NM_000187.4(HGD):c.186T>G (p.Tyr62Ter) rs2107548853
NM_000187.4(HGD):c.18C>T (p.Tyr6=) rs769728875
NM_000187.4(HGD):c.198T>C (p.Pro66=) rs2107548808
NM_000187.4(HGD):c.210C>T (p.His70=)
NM_000187.4(HGD):c.216C>T (p.Pro72=)
NM_000187.4(HGD):c.225C>T (p.Ser75=) rs2107548752
NM_000187.4(HGD):c.228T>C (p.Ile76=) rs2107548724
NM_000187.4(HGD):c.237C>T (p.Gly79=)
NM_000187.4(HGD):c.237_240del (p.Gln80fs)
NM_000187.4(HGD):c.243C>T (p.Val81=) rs377043265
NM_000187.4(HGD):c.255G>A (p.Trp85Ter)
NM_000187.4(HGD):c.278A>G (p.Asn93Ser)
NM_000187.4(HGD):c.279C>T (p.Asn93=)
NM_000187.4(HGD):c.282+11C>T
NM_000187.4(HGD):c.282+14G>A
NM_000187.4(HGD):c.282+5C>A
NM_000187.4(HGD):c.283-12dup rs777429123
NM_000187.4(HGD):c.283-13A>T
NM_000187.4(HGD):c.283-18T>A
NM_000187.4(HGD):c.283-18T>C
NM_000187.4(HGD):c.283-1G>A rs2107522179
NM_000187.4(HGD):c.283-20T>C
NM_000187.4(HGD):c.283-5del rs777429123
NM_000187.4(HGD):c.33G>C (p.Gly11=) rs886415775
NM_000187.4(HGD):c.342+15T>A
NM_000187.4(HGD):c.342+16_342+17del
NM_000187.4(HGD):c.342+19C>T
NM_000187.4(HGD):c.342+20A>G
NM_000187.4(HGD):c.342+3A>C
NM_000187.4(HGD):c.342+9G>T rs1941376798
NM_000187.4(HGD):c.343-11G>A rs143223637
NM_000187.4(HGD):c.343-11G>T
NM_000187.4(HGD):c.343-11del
NM_000187.4(HGD):c.343-20_343-19del
NM_000187.4(HGD):c.343-6T>A rs753344566
NM_000187.4(HGD):c.360T>G (p.Cys120Trp) rs149165166
NM_000187.4(HGD):c.368G>A (p.Gly123Glu) rs374473331
NM_000187.4(HGD):c.375A>T (p.Ile125=)
NM_000187.4(HGD):c.378del (p.Lys126fs)
NM_000187.4(HGD):c.398del (p.Ile133fs)
NM_000187.4(HGD):c.3G>C (p.Met1Ile) rs1057516355
NM_000187.4(HGD):c.401A>G (p.His134Arg)
NM_000187.4(HGD):c.413_434+35del
NM_000187.4(HGD):c.420C>T (p.Thr140=)
NM_000187.4(HGD):c.434+12A>G
NM_000187.4(HGD):c.434+13G>C
NM_000187.4(HGD):c.434+14T>C
NM_000187.4(HGD):c.434+19G>A
NM_000187.4(HGD):c.434+19G>T
NM_000187.4(HGD):c.434+1del
NM_000187.4(HGD):c.434+20G>A
NM_000187.4(HGD):c.435-1G>C
NM_000187.4(HGD):c.43T>C (p.Ser15Pro) rs2107557717
NM_000187.4(HGD):c.447T>A (p.Asn149Lys) rs2107513499
NM_000187.4(HGD):c.448del (p.Ser150fs)
NM_000187.4(HGD):c.457dup (p.Asp153fs) rs397515346
NM_000187.4(HGD):c.469+15C>G
NM_000187.4(HGD):c.469+1G>C rs1260545974
NM_000187.4(HGD):c.470-11T>G
NM_000187.4(HGD):c.470-18C>T
NM_000187.4(HGD):c.470-5G>A rs980173157
NM_000187.4(HGD):c.470-6del
NM_000187.4(HGD):c.474G>A (p.Pro158=) rs2293734
NM_000187.4(HGD):c.474G>T (p.Pro158=) rs2293734
NM_000187.4(HGD):c.480A>G (p.Lys160=)
NM_000187.4(HGD):c.482G>A (p.Gly161Glu)
NM_000187.4(HGD):c.499A>G (p.Thr167Ala)
NM_000187.4(HGD):c.502G>T (p.Glu168Ter) rs375283568
NM_000187.4(HGD):c.518T>A (p.Leu173His)
NM_000187.4(HGD):c.525G>A (p.Gln175=)
NM_000187.4(HGD):c.541G>A (p.Val181Ile)
NM_000187.4(HGD):c.549+1G>T
NM_000187.4(HGD):c.550-7A>C
NM_000187.4(HGD):c.550-9C>A
NM_000187.4(HGD):c.559C>A (p.Arg187=) rs756255206
NM_000187.4(HGD):c.57T>G (p.Pro19=)
NM_000187.4(HGD):c.583G>T (p.Glu195Ter) rs1184695718
NM_000187.4(HGD):c.588_597del (p.Arg197fs)
NM_000187.4(HGD):c.588del (p.Arg197fs)
NM_000187.4(HGD):c.624T>C (p.Phe208=) rs1576295648
NM_000187.4(HGD):c.633T>C (p.Pro211=)
NM_000187.4(HGD):c.649+13T>C
NM_000187.4(HGD):c.649+13T>G
NM_000187.4(HGD):c.649+18G>A
NM_000187.4(HGD):c.650-13T>G
NM_000187.4(HGD):c.652del rs786204662
NM_000187.4(HGD):c.660C>G (p.Gly220=)
NM_000187.4(HGD):c.663G>A (p.Leu221=) rs755921083
NM_000187.4(HGD):c.666C>G (p.Ala222=)
NM_000187.4(HGD):c.672T>C (p.Pro224=)
NM_000187.4(HGD):c.673del (p.Arg225fs)
NM_000187.4(HGD):c.674G>C (p.Arg225Pro)
NM_000187.4(HGD):c.680T>C (p.Phe227Ser) rs1941093400
NM_000187.4(HGD):c.684G>A (p.Leu228=)
NM_000187.4(HGD):c.699G>A (p.Trp233Ter)
NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)
NM_000187.4(HGD):c.714A>G (p.Gln238=) rs1194507329
NM_000187.4(HGD):c.717A>T (p.Val239=)
NM_000187.4(HGD):c.735C>T (p.Val245=)
NM_000187.4(HGD):c.756G>A (p.Lys252=)
NM_000187.4(HGD):c.774+17G>C
NM_000187.4(HGD):c.774+20A>C
NM_000187.4(HGD):c.774+7T>C
NM_000187.4(HGD):c.775-15G>A
NM_000187.4(HGD):c.775-15G>T
NM_000187.4(HGD):c.775-1G>A rs2107502859
NM_000187.4(HGD):c.792T>C (p.Asn264=) rs2107502799
NM_000187.4(HGD):c.820C>A (p.Pro274Thr)
NM_000187.4(HGD):c.831C>T (p.Tyr277=) rs1940984085
NM_000187.4(HGD):c.852T>C (p.Val284=)
NM_000187.4(HGD):c.87+13A>G
NM_000187.4(HGD):c.87+1G>A
NM_000187.4(HGD):c.87+7G>A rs1576319604
NM_000187.4(HGD):c.87+8C>T
NM_000187.4(HGD):c.879+14C>T
NM_000187.4(HGD):c.879+14del
NM_000187.4(HGD):c.879+9G>A rs915477284
NM_000187.4(HGD):c.88-20T>A
NM_000187.4(HGD):c.88-7G>T rs759234521
NM_000187.4(HGD):c.880-20C>A
NM_000187.4(HGD):c.880-23_880-18del
NM_000187.4(HGD):c.880-4A>G rs781667761
NM_000187.4(HGD):c.891T>C (p.Ile297=)
NM_000187.4(HGD):c.897A>G (p.Thr299=)
NM_000187.4(HGD):c.898G>C (p.Val300Leu)
NM_000187.4(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000187.4(HGD):c.900A>G (p.Val300=)
NM_000187.4(HGD):c.931G>A (p.Ala311Thr)
NM_000187.4(HGD):c.948C>A (p.Val316=) rs1576289221
NM_000187.4(HGD):c.95C>A (p.Pro32His)
NM_000187.4(HGD):c.960T>G (p.Pro320=) rs2107498220
NM_000187.4(HGD):c.961C>T (p.Arg321Ter)
NM_000187.4(HGD):c.963A>G (p.Arg321=)
NM_000187.4(HGD):c.970dup (p.Val324fs) rs34214309
NM_000187.4(HGD):c.972T>G (p.Val324=)
NM_000187.4(HGD):c.999T>C (p.Tyr333=)

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