ClinVar Miner

List of variants studied for disorder of tyrosine metabolism by Medical Molecular Genetics Department, National Research Center

Included ClinVar conditions (15):

Alkaptonuria
Autosomal recessive DOPA responsive dystonia
Hawkinsinuria
Hawkinsinuria; Tyrosinemia type III
Oculocutaneous albinism type 1
Oculocutaneous albinism type 1B
Temperature-sensitive oculocutaneous albinism type 1
Tyrosinase-negative oculocutaneous albinism
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Ocular albinism with congenital sensorineural hearing loss; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
Tyrosinemia
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	rs1042602	0.24593
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)	rs61753256	0.00003

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