List of variants in gene TYR reported as uncertain significance for amino acid metabolism disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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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.1205G>A (p.Arg402Gln)	rs1126809	0.18094
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_000372.5(TYR):c.1366+4A>G	rs61754398	0.00175
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn)	rs138750983	0.00052
NM_000372.5(TYR):c.1067A>T (p.Asp356Val)	rs180801021	0.00037
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	rs63159160	0.00029
NM_000372.5(TYR):c.1446G>C (p.Ala482=)	rs3913543	0.00022
NM_000372.5(TYR):c.915C>A (p.Asp305Glu)	rs142170797	0.00017
NM_000372.5(TYR):c.1161T>C (p.Leu387=)	rs141967840	0.00011
NM_000372.5(TYR):c.892C>T (p.Arg298Trp)	rs200854796	0.00006
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)	rs62645908	0.00005
NM_000372.5(TYR):c.875C>T (p.Thr292Met)	rs61754372	0.00003
NM_000372.5(TYR):c.389A>T (p.Glu130Val)	rs966882228	0.00002
NM_000372.5(TYR):c.1202T>C (p.Leu401Pro)	rs2135324201
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)	rs797046081
NM_000372.5(TYR):c.157G>C (p.Gly53Arg)	rs1591133731
NM_000372.5(TYR):c.164G>C (p.Cys55Ser)	rs28940879

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