List of variants reported as benign for alkaptonuria by Illumina Laboratory Services, Illumina

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Total variants: 9

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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.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.221A>T (p.Glu74Val)	rs141965690	0.00027
NM_000187.4(HGD):c.343-11G>A	rs143223637

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