List of variants in gene TYR reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
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: 16

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HGVS	dbSNP	gnomAD frequency
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	0.00051
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.230G>A (p.Arg77Gln)	rs61753185	0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His)	rs61754375	0.00006
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	rs121908011	0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)	rs62645917	0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	rs62645904	0.00004
NM_000372.5(TYR):c.1037-2A>G	rs748901196	0.00002
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)	rs797046083	0.00001
NM_000372.5(TYR):c.338_339del (p.Thr113fs)	rs61753254
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)	rs61754368

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