ClinVar Miner

List of variants studied for alkaptonuria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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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.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.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_000187.3(HGD):c.-207G>A rs147272996 0.00306
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_000187.3(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_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173 0.00031
NM_000187.4(HGD):c.221A>T (p.Glu74Val) rs141965690 0.00027
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.481G>A (p.Gly161Arg) rs28941783 0.00016
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.1027A>C (p.Met343Leu) rs755078457 0.00004
NM_000187.4(HGD):c.177-5T>C rs768308376 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.688C>T (p.Pro230Ser) rs28942100 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_000187.3(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.923C>G (p.Pro308Arg) rs201529624 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.1115G>T (p.Gly372Val) rs1940645751
NM_000187.4(HGD):c.1189-4C>T rs1940489783
NM_000187.4(HGD):c.343-11G>A rs143223637
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.48A>G (p.Ser16=) rs886057818
NM_000187.4(HGD):c.880-4A>G rs781667761

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