ClinVar Miner

List of variants reported as pathogenic for alkaptonuria by Invitae

Included ClinVar conditions (1):
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173 0.00031
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783 0.00016
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.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.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.291G>A (p.Trp97Ter) rs766714128 0.00001
NM_000187.4(HGD):c.674G>A (p.Arg225His) rs562853291 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.100del (p.Val34fs)
NM_000187.4(HGD):c.1039C>T (p.Arg347Ter) rs975005146
NM_000187.4(HGD):c.105C>A (p.Cys35Ter)
NM_000187.4(HGD):c.1111del (p.His371fs) rs397515516
NM_000187.4(HGD):c.1112dup (p.His371fs)
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.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.1288del (p.Leu430fs) rs2107483632
NM_000187.4(HGD):c.133del (p.Ser45fs)
NM_000187.4(HGD):c.175del (p.Ser59fs) rs397515517
NM_000187.4(HGD):c.179G>A (p.Trp60Ter) rs1057516467
NM_000187.4(HGD):c.186T>G (p.Tyr62Ter) rs2107548853
NM_000187.4(HGD):c.237_240del (p.Gln80fs)
NM_000187.4(HGD):c.255G>A (p.Trp85Ter)
NM_000187.4(HGD):c.342+3A>C
NM_000187.4(HGD):c.360T>G (p.Cys120Trp) rs149165166
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.413_434+35del
NM_000187.4(HGD):c.434+1del
NM_000187.4(HGD):c.448del (p.Ser150fs)
NM_000187.4(HGD):c.457dup (p.Asp153fs) rs397515346
NM_000187.4(HGD):c.469+1G>C rs1260545974
NM_000187.4(HGD):c.502G>T (p.Glu168Ter) rs375283568
NM_000187.4(HGD):c.549+1G>T
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.650-13T>G
NM_000187.4(HGD):c.652del rs786204662
NM_000187.4(HGD):c.673del (p.Arg225fs)
NM_000187.4(HGD):c.680T>C (p.Phe227Ser) rs1941093400
NM_000187.4(HGD):c.699G>A (p.Trp233Ter)
NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)
NM_000187.4(HGD):c.87+1G>A
NM_000187.4(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000187.4(HGD):c.961C>T (p.Arg321Ter)
NM_000187.4(HGD):c.970dup (p.Val324fs) rs34214309

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