ClinVar Miner

List of variants reported as pathogenic for alkaptonuria

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 235
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HGVS dbSNP gnomAD frequency
NM_000187.4(HGD):c.1221G>A (p.Ala407=) rs146206905 0.01639
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.1112A>G (p.His371Arg) rs120074172 0.00012
NM_000187.4(HGD):c.752G>A (p.Gly251Asp) rs781011621 0.00011
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.808G>A (p.Gly270Arg) rs120074174 0.00006
NM_000187.4(HGD):c.16-1G>A rs397515347 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.688C>T (p.Pro230Ser) rs28942100 0.00003
NM_000187.4(HGD):c.709C>T (p.Arg237Cys) rs1171237852 0.00003
NM_000187.4(HGD):c.990G>T (p.Arg330Ser) rs120074171 0.00003
NM_000187.4(HGD):c.1336T>C (p.Ter446Arg) rs143370662 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.1007-2A>T rs1559781702 0.00001
NM_000187.4(HGD):c.1078G>C (p.Gly360Arg) rs368717991 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.157C>T (p.Arg53Trp) rs759435977 0.00001
NM_000187.4(HGD):c.291G>A (p.Trp97Ter) rs766714128 0.00001
NM_000187.4(HGD):c.343G>C (p.Gly115Arg) rs755734596 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000187.4(HGD):c.536T>G (p.Ile179Ser) rs1031569954 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.821C>T (p.Pro274Leu) rs1397264922 0.00001
NC_000003.11:g.(?_120365818)_(133465047_?)del
NC_000003.12:g.(?_120633127)_(120633348_?)del
NC_000003.12:g.(?_120647857)_(120647931_?)del
NC_000003.12:g.120655369_120682240del
NM_000187.3(HGD):c.651_652delGG rs786204662
NM_000187.4(HGD):c.1006+2T>A rs1320184173
NM_000187.4(HGD):c.1006+6T>C
NM_000187.4(HGD):c.1007-1709_1188+1121del
NM_000187.4(HGD):c.1007G>A (p.Arg336Lys)
NM_000187.4(HGD):c.1007G>C (p.Arg336Thr)
NM_000187.4(HGD):c.1008dup
NM_000187.4(HGD):c.1009A>G (p.Asn337Asp)
NM_000187.4(HGD):c.100del (p.Val34fs)
NM_000187.4(HGD):c.1016del (p.Met339fs)
NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs) rs1057517081
NM_000187.4(HGD):c.1019G>T (p.Ser340Ile)
NM_000187.4(HGD):c.1031del (p.Gly344fs) rs1295089623
NM_000187.4(HGD):c.1034T>G (p.Leu345Arg)
NM_000187.4(HGD):c.1037T>C (p.Ile346Thr)
NM_000187.4(HGD):c.1039C>T (p.Arg347Ter) rs975005146
NM_000187.4(HGD):c.1040G>C (p.Arg347Pro)
NM_000187.4(HGD):c.1049A>G (p.Tyr350Cys)
NM_000187.4(HGD):c.1057A>C (p.Lys353Gln)
NM_000187.4(HGD):c.105C>A (p.Cys35Ter)
NM_000187.4(HGD):c.1060C>T (p.Gln354Ter)
NM_000187.4(HGD):c.1075C>T (p.Pro359Ser)
NM_000187.4(HGD):c.1079G>C (p.Gly360Ala)
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg) rs765219004
NM_000187.4(HGD):c.1085G>A (p.Gly362Glu)
NM_000187.4(HGD):c.1095_1100dup (p.Thr367_Met368insSerThr)
NM_000187.4(HGD):c.1111del (p.His371fs) rs397515516
NM_000187.4(HGD):c.1111dup (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.1115_1117del (p.Gly372_Pro373delinsAla)
NM_000187.4(HGD):c.1118C>T (p.Pro373Leu)
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.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+8T>A
NM_000187.4(HGD):c.1189-41_1248del
NM_000187.4(HGD):c.119A>C (p.Tyr40Ser)
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.1245del (p.Ser416fs) rs2107483736
NM_000187.4(HGD):c.1269C>A (p.Tyr423Ter) rs1186509068
NM_000187.4(HGD):c.127C>G (p.Gln43Glu) rs1243059404
NM_000187.4(HGD):c.1288del (p.Leu430fs) rs2107483632
NM_000187.4(HGD):c.1290_1300del (p.Lys431fs) rs1553715351
NM_000187.4(HGD):c.130C>T (p.Leu44Phe)
NM_000187.4(HGD):c.131T>C (p.Leu44Pro) rs1708095030
NM_000187.4(HGD):c.133del (p.Ser45fs)
NM_000187.4(HGD):c.140C>T (p.Ser47Leu) rs369517993
NM_000187.4(HGD):c.15G>A (p.Lys5=)
NM_000187.4(HGD):c.16-272_87+305del rs1553721650
NM_000187.4(HGD):c.171G>C (p.Lys57Asn)
NM_000187.4(HGD):c.174A>T (p.Arg58Ser)
NM_000187.4(HGD):c.175del (p.Ser59fs) rs397515517
NM_000187.4(HGD):c.177-2A>G
NM_000187.4(HGD):c.178T>G (p.Trp60Gly)
NM_000187.4(HGD):c.179G>A (p.Trp60Ter) rs1057516467
NM_000187.4(HGD):c.180G>A (p.Trp60Ter)
NM_000187.4(HGD):c.182T>C (p.Leu61Pro)
NM_000187.4(HGD):c.184T>A (p.Tyr62Asn)
NM_000187.4(HGD):c.184_187dup (p.Arg63delinsIleTer)
NM_000187.4(HGD):c.185A>G (p.Tyr62Cys)
NM_000187.4(HGD):c.186T>G (p.Tyr62Ter) rs2107548853
NM_000187.4(HGD):c.189G>A (p.Arg63=)
NM_000187.4(HGD):c.189G>T (p.Arg63Ser) rs1390061303
NM_000187.4(HGD):c.1A>G (p.Met1Val) rs1708240463
NM_000187.4(HGD):c.217T>C (p.Phe73Leu)
NM_000187.4(HGD):c.237_240del (p.Gln80fs)
NM_000187.4(HGD):c.255G>A (p.Trp85Ter)
NM_000187.4(HGD):c.274C>A (p.Pro92Thr)
NM_000187.4(HGD):c.289T>C (p.Trp97Arg)
NM_000187.4(HGD):c.289T>G (p.Trp97Gly)
NM_000187.4(HGD):c.291G>C (p.Trp97Cys)
NM_000187.4(HGD):c.299T>C (p.Phe100Ser)
NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs) rs1057516362
NM_000187.4(HGD):c.334T>G (p.Phe112Val)
NM_000187.4(HGD):c.335T>C (p.Phe112Ser)
NM_000187.4(HGD):c.342+1G>A rs397515518
NM_000187.4(HGD):c.342+3A>C
NM_000187.4(HGD):c.357dup (p.Cys120fs)
NM_000187.4(HGD):c.360T>G (p.Cys120Trp) rs149165166
NM_000187.4(HGD):c.362G>A (p.Gly121Glu)
NM_000187.4(HGD):c.365C>A (p.Ala122Asp)
NM_000187.4(HGD):c.368G>C (p.Gly123Ala)
NM_000187.4(HGD):c.376_377del (p.Lys126fs) rs1057516976
NM_000187.4(HGD):c.378del (p.Lys126fs)
NM_000187.4(HGD):c.37G>A (p.Glu13Lys)
NM_000187.4(HGD):c.398del (p.Ile133fs)
NM_000187.4(HGD):c.3G>C (p.Met1Ile) rs1057516355
NM_000187.4(HGD):c.407T>A (p.Phe136Tyr)
NM_000187.4(HGD):c.410T>C (p.Leu137Pro)
NM_000187.4(HGD):c.413_434+35del
NM_000187.4(HGD):c.433A>T (p.Arg145Ter)
NM_000187.4(HGD):c.434+1del
NM_000187.4(HGD):c.440T>C (p.Phe147Ser)
NM_000187.4(HGD):c.447T>A (p.Asn149Lys) rs2107513499
NM_000187.4(HGD):c.448del (p.Ser150fs)
NM_000187.4(HGD):c.449C>T (p.Ser150Leu)
NM_000187.4(HGD):c.454G>A (p.Gly152Arg)
NM_000187.4(HGD):c.455G>C (p.Gly152Ala) rs1553717936
NM_000187.4(HGD):c.457G>A (p.Asp153Asn)
NM_000187.4(HGD):c.457dup (p.Asp153fs) rs397515346
NM_000187.4(HGD):c.458A>G (p.Asp153Gly)
NM_000187.4(HGD):c.469+1G>C rs1260545974
NM_000187.4(HGD):c.469+5G>A
NM_000187.4(HGD):c.469+6T>C
NM_000187.4(HGD):c.469G>T (p.Val157Phe)
NM_000187.4(HGD):c.470-1G>A
NM_000187.4(HGD):c.470-1_470insA
NM_000187.4(HGD):c.472_496del (p.Pro158fs)
NM_000187.4(HGD):c.473C>G (p.Pro158Arg)
NM_000187.4(HGD):c.500C>T (p.Thr167Ile)
NM_000187.4(HGD):c.502G>T (p.Glu168Ter) rs375283568
NM_000187.4(HGD):c.504G>C (p.Glu168Asp)
NM_000187.4(HGD):c.507T>C (p.Phe169=)
NM_000187.4(HGD):c.508G>A (p.Gly170Ser)
NM_000187.4(HGD):c.509G>C (p.Gly170Ala)
NM_000187.4(HGD):c.513G>T (p.Lys171Asn)
NM_000187.4(HGD):c.515T>C (p.Met172Thr)
NM_000187.4(HGD):c.52G>A (p.Asp18Asn)
NM_000187.4(HGD):c.52G>T (p.Asp18Tyr)
NM_000187.4(HGD):c.533A>G (p.Glu178Gly)
NM_000187.4(HGD):c.541G>T (p.Val181Phe)
NM_000187.4(HGD):c.549+1G>A
NM_000187.4(HGD):c.549+1G>T
NM_000187.4(HGD):c.549G>T (p.Gln183His)
NM_000187.4(HGD):c.54T>A (p.Asp18Glu)
NM_000187.4(HGD):c.550-2A>C
NM_000187.4(HGD):c.550-2A>G
NM_000187.4(HGD):c.553G>A (p.Gly185Arg)
NM_000187.4(HGD):c.557T>A (p.Met186Lys)
NM_000187.4(HGD):c.559C>G (p.Arg187Gly) rs756255206
NM_000187.4(HGD):c.566G>T (p.Ser189Ile) rs2107510544
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.589A>G (p.Arg197Gly)
NM_000187.4(HGD):c.593G>A (p.Gly198Asp)
NM_000187.4(HGD):c.614G>A (p.Gly205Asp)
NM_000187.4(HGD):c.614G>T (p.Gly205Val)
NM_000187.4(HGD):c.647T>C (p.Ile216Thr)
NM_000187.4(HGD):c.649+1G>A
NM_000187.4(HGD):c.649+2T>C rs1057516307
NM_000187.4(HGD):c.649+39T>G
NM_000187.4(HGD):c.649G>T (p.Gly217Trp)
NM_000187.4(HGD):c.650-13T>G
NM_000187.4(HGD):c.650-17G>A
NM_000187.4(HGD):c.650-56G>A
NM_000187.4(HGD):c.652del rs786204662
NM_000187.4(HGD):c.656A>G (p.Asn219Ser)
NM_000187.4(HGD):c.656_657insAATCAA (p.Ala218_Asn219insLysIle)
NM_000187.4(HGD):c.659G>T (p.Gly220Val)
NM_000187.4(HGD):c.664_674dup (p.Asp226fs)
NM_000187.4(HGD):c.665C>A (p.Ala222Asp) rs1576294110
NM_000187.4(HGD):c.673del (p.Arg225fs)
NM_000187.4(HGD):c.674G>C (p.Arg225Pro)
NM_000187.4(HGD):c.674G>T (p.Arg225Leu)
NM_000187.4(HGD):c.679T>C (p.Phe227Leu)
NM_000187.4(HGD):c.680T>C (p.Phe227Ser) rs1941093400
NM_000187.4(HGD):c.688C>A (p.Pro230Thr)
NM_000187.4(HGD):c.699G>A (p.Trp233Ter)
NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)
NM_000187.4(HGD):c.733G>T (p.Val245Phe)
NM_000187.4(HGD):c.742A>G (p.Lys248Glu)
NM_000187.4(HGD):c.74T>C (p.Leu25Pro)
NM_000187.4(HGD):c.753C>T (p.Gly251=) rs1357020990
NM_000187.4(HGD):c.773A>C (p.Gln258Pro)
NM_000187.4(HGD):c.774+1G>T
NM_000187.4(HGD):c.775-16T>A
NM_000187.4(HGD):c.787T>C (p.Phe263Leu)
NM_000187.4(HGD):c.791A>G (p.Asn264Ser)
NM_000187.4(HGD):c.800C>T (p.Ala267Val)
NM_000187.4(HGD):c.806A>G (p.His269Arg)
NM_000187.4(HGD):c.815A>G (p.Tyr272Cys)
NM_000187.4(HGD):c.828G>C (p.Lys276Asn)
NM_000187.4(HGD):c.85del (p.Gln29fs)
NM_000187.4(HGD):c.860C>A (p.Ser287Ter)
NM_000187.4(HGD):c.87+1G>A
NM_000187.4(HGD):c.87+8_88-31del
NM_000187.4(HGD):c.873C>A (p.Asp291Glu)
NM_000187.4(HGD):c.875A>G (p.His292Arg)
NM_000187.4(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000187.4(HGD):c.914C>T (p.Ser305Phe)
NM_000187.4(HGD):c.926G>T (p.Gly309Val)
NM_000187.4(HGD):c.946G>A (p.Val316Ile)
NM_000187.4(HGD):c.961C>T (p.Arg321Ter)
NM_000187.4(HGD):c.962G>A (p.Arg321Gln)
NM_000187.4(HGD):c.964T>C (p.Trp322Arg)
NM_000187.4(HGD):c.970dup (p.Val324fs) rs34214309
NM_000187.4(HGD):c.986T>G (p.Phe329Cys)
NM_000187.4(HGD):c.98A>G (p.Gln33Arg)
NM_000187.4(HGD):c.990G>C (p.Arg330Ser)
NM_000187.4(HGD):c.995C>G (p.Pro332Arg)
NM_000187.4:c.283-9199_434+1688del

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