ClinVar Miner

List of variants reported as uncertain significance for alkaptonuria

Included ClinVar conditions (1):
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000187.3(HGD):c.-207G>A rs147272996 0.00306
NM_000187.3(HGD):c.-452G>T rs142298361 0.00099
NM_000187.3(HGD):c.-383C>G rs148732655 0.00089
NM_000187.3(HGD):c.*210G>A rs768955353 0.00061
NM_000187.4(HGD):c.*32G>A rs376051958 0.00035
NM_000187.3(HGD):c.-221G>A rs535973482 0.00026
NM_000187.4(HGD):c.835C>A (p.Leu279Met) rs200382812 0.00022
NM_000187.4(HGD):c.8A>C (p.Glu3Ala) rs200412910 0.00022
NM_000187.4(HGD):c.1176C>T (p.Ala392=) rs368805723 0.00013
NM_000187.4(HGD):c.567C>G (p.Ser189Arg) rs750428921 0.00013
NM_000187.3(HGD):c.-218A>G rs553200191 0.00012
NM_000187.4(HGD):c.*155A>G rs776810530 0.00011
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.1206A>G (p.Ser402=) rs140500816 0.00009
NM_000187.4(HGD):c.-19C>T rs376849236 0.00006
NM_000187.4(HGD):c.550-14G>C rs769000073 0.00006
NM_000187.4(HGD):c.794T>C (p.Val265Ala) rs554816026 0.00006
NM_000187.4(HGD):c.*145C>T rs1011081332 0.00004
NM_000187.4(HGD):c.177-5T>C rs768308376 0.00004
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000187.3(HGD):c.-446G>T rs541656880 0.00003
NM_000187.4(HGD):c.-100G>A rs547960368 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.920G>A (p.Arg307His) rs752719362 0.00003
NM_000187.4(HGD):c.990G>T (p.Arg330Ser) rs120074171 0.00003
NM_000187.4(HGD):c.58C>T (p.Arg20Cys) rs755454185 0.00002
NM_000187.3(HGD):c.-255G>T rs886057820 0.00001
NM_000187.4(HGD):c.-13G>C rs775087041 0.00001
NM_000187.4(HGD):c.-18A>G rs755624842 0.00001
NM_000187.4(HGD):c.1266C>T (p.Asn422=) rs1417213536 0.00001
NM_000187.4(HGD):c.307C>A (p.Pro103Thr) rs559502955 0.00001
NM_000187.4(HGD):c.434+8G>T rs745572601 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000187.4(HGD):c.710G>A (p.Arg237His) rs866509210 0.00001
NM_000187.4(HGD):c.923C>G (p.Pro308Arg) rs201529624 0.00001
NM_000187.4(HGD):c.967G>A (p.Gly323Arg) rs762564483 0.00001
NM_000187.3(HGD):c.-163C>G rs556156265
NM_000187.3(HGD):c.-241A>G rs886057819
NM_000187.3(HGD):c.-407C>T rs886057821
NM_000187.4(HGD):c.*117G>A rs1940481443
NM_000187.4(HGD):c.1040G>A (p.Arg347Gln)
NM_000187.4(HGD):c.1061A>C (p.Gln354Pro)
NM_000187.4(HGD):c.1061A>G (p.Gln354Arg)
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg) rs765219004
NM_000187.4(HGD):c.109T>G (p.Tyr37Asp)
NM_000187.4(HGD):c.1106C>A (p.Thr369Asn) rs765912447
NM_000187.4(HGD):c.1115G>T (p.Gly372Val) rs1940645751
NM_000187.4(HGD):c.1120G>C (p.Asp374His) rs981454067
NM_000187.4(HGD):c.1162C>T (p.Pro388Ser)
NM_000187.4(HGD):c.1189-4C>T rs1940489783
NM_000187.4(HGD):c.1281G>A (p.Trp427Ter)
NM_000187.4(HGD):c.164_166del (p.Thr55del) rs1708093744
NM_000187.4(HGD):c.278A>G (p.Asn93Ser)
NM_000187.4(HGD):c.282+5C>A
NM_000187.4(HGD):c.283-18T>A
NM_000187.4(HGD):c.401A>G (p.His134Arg)
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.455G>C (p.Gly152Ala) rs1553717936
NM_000187.4(HGD):c.474G>A (p.Pro158=) rs2293734
NM_000187.4(HGD):c.48A>G (p.Ser16=) rs886057818
NM_000187.4(HGD):c.499A>G (p.Thr167Ala)
NM_000187.4(HGD):c.518T>A (p.Leu173His)
NM_000187.4(HGD):c.518T>C (p.Leu173Pro)
NM_000187.4(HGD):c.541G>A (p.Val181Ile)
NM_000187.4(HGD):c.559C>G (p.Arg187Gly) rs756255206
NM_000187.4(HGD):c.880-4A>G rs781667761
NM_000187.4(HGD):c.931G>A (p.Ala311Thr)
NM_000187.4(HGD):c.95C>A (p.Pro32His)

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