ClinVar Miner

List of variants in gene HGD reported as benign for alkaptonuria

Included ClinVar conditions (1):
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000187.4(HGD):c.342+25C>T rs2551607 0.82473
NM_000187.4(HGD):c.240A>T (p.Gln80His) rs2255543 0.75354
NM_000187.4(HGD):c.879+18A>G rs1800700 0.03754
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.650-85A>G rs2075504 0.00999
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_000187.4(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.360T>C (p.Cys120=) rs149165166 0.00054
NM_000187.4(HGD):c.221A>T (p.Glu74Val) rs141965690 0.00027
NM_000187.4(HGD):c.969G>A (p.Gly323=) rs376724242 0.00008
NM_000187.4(HGD):c.282+14G>A
NM_000187.4(HGD):c.283-12dup rs777429123
NM_000187.4(HGD):c.283-5del rs777429123
NM_000187.4(HGD):c.343-11G>A rs143223637
NM_000187.4(HGD):c.470-6del
NM_000187.4(HGD):c.474G>T (p.Pro158=) rs2293734

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