ClinVar Miner

List of variants reported as likely benign for Alkaptonuria by Fulgent Genetics, Fulgent Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000187.4(HGD):c.1179T>C (p.Asp393=) rs146482816 0.00886
NM_000187.4(HGD):c.711C>A (p.Arg237=) rs147204182 0.00302
NM_000187.4(HGD):c.1128C>G (p.Asp376Glu) rs150145204 0.00060
NM_000187.4(HGD):c.221A>T (p.Glu74Val) rs141965690 0.00027
NM_000187.4(HGD):c.786G>A (p.Pro262=) rs747648606 0.00006
NM_000187.4(HGD):c.1027A>C (p.Met343Leu) rs755078457 0.00004
NM_000187.4(HGD):c.6T>A (p.Ala2=) rs1308413187 0.00004
NM_000187.4(HGD):c.807C>T (p.His269=) rs758567130 0.00004
NM_000187.4(HGD):c.477G>A (p.Gln159=) rs1351109217 0.00003
NM_000187.4(HGD):c.1335T>C (p.Asn445=) rs187614203 0.00001
NM_000187.4(HGD):c.343-5C>T rs779590565 0.00001
NM_000187.4(HGD):c.915T>C (p.Ser305=) rs144158342 0.00001
NM_000187.4(HGD):c.283-5del rs777429123
NM_000187.4(HGD):c.343-6T>A rs753344566

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