ClinVar Miner

List of variants studied for alkaptonuria by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000187.4(HGD):c.536T>G (p.Ile179Ser) rs1031569954 0.00001
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg) rs1940645842
NM_000187.4(HGD):c.127C>G (p.Gln43Glu) rs1243059404
NM_000187.4(HGD):c.131T>C (p.Leu44Pro) rs1708095030
NM_000187.4(HGD):c.1A>G (p.Met1Val) rs1708240463
NM_000187.4(HGD):c.413G>A (p.Cys138Tyr) rs1941316527
NM_000187.4(HGD):c.665C>A (p.Ala222Asp) rs1576294110
NM_000187.4(HGD):c.753C>T (p.Gly251=) rs1357020990

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