List of variants in gene TYRP1 studied for Oculocutaneous albinism type 3; MELANESIAN BLOND HAIR

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr)	rs61752864	0.00027
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter)	rs104894130	0.00021
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys)	rs201789348	0.00006
NM_000550.3(TYRP1):c.520G>T (p.Gly174Cys)	rs78071458	0.00006
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter)	rs780433845	0.00004
NM_000550.3(TYRP1):c.-70C>T	rs766836831	0.00003
NM_000550.3(TYRP1):c.176C>G (p.Ser59Ter)
NM_000550.3(TYRP1):c.570G>A (p.Trp190Ter)
NM_000550.3(TYRP1):c.782_793del (p.Cys261_Asp264del)
NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)

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