List of variants in gene LURAP1L, 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter)	rs41302073	0.01144
NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp)	rs138272660	0.00036
NM_000550.3(TYRP1):c.1261+1G>A	rs140365820	0.00021
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter)	rs121912778	0.00006
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)	rs281865424	0.00004
NM_000550.3(TYRP1):c.1082G>C (p.Gly361Ala)	rs372225049	0.00001
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs)	rs387906562
NM_000550.3(TYRP1):c.1082-1G>C
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)	rs387906560
NM_000550.3(TYRP1):c.1167del (p.Gln390fs)
NM_000550.3(TYRP1):c.1372_1375dup (p.Asn459fs)
NM_000550.3(TYRP1):c.1377_1380dup (p.Gly461fs)
NM_000550.3(TYRP1):c.1415_1418dup (p.Phe473fs)
NM_000550.3(TYRP1):c.985G>T (p.Glu329Ter)

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