List of variants in gene TYR reported as pathogenic for Oculocutaneous albinism type 1B

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	rs1126809	0.17677
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	rs61754388	0.00050
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	rs61753180	0.00030
NM_000372.5(TYR):c.823G>T (p.Val275Phe)	rs104894314	0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	rs28940876	0.00018
NM_000372.5(TYR):c.1467dup (p.Ala490fs)	rs61754399	0.00014
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)	rs104894317	0.00011
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	rs62645904	0.00009
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)	rs61753185	0.00007
NM_000372.5(TYR):c.1A>G (p.Met1Val)	rs28940881	0.00006
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln)	rs61754393	0.00002
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	rs28940879	0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser)	rs61753178	0.00001
NM_000372.5(TYR):c.976C>T (p.Gln326Ter)	rs540911439	0.00001
GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160
NM_000372.5(TYR):c.1056del (p.Gly353_Ile354insTer)	rs1943996205
NM_000372.5(TYR):c.1185-2A>G	rs1289685376
NM_000372.5(TYR):c.1237del (p.Glu413fs)	rs1565423615
NM_000372.5(TYR):c.1322del (p.Ser441fs)	rs2496711997
NM_000372.5(TYR):c.391_393del (p.Lys131del)	rs1413017181
NM_000372.5(TYR):c.773_774del (p.Thr258fs)	rs1374400414

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