List of variants reported as pathogenic for tyrosine hydroxylase deficiency by Baylor Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892	0.00014
NM_000360.4(TH):c.292C>T (p.Arg98Ter)	rs1057519220	0.00002
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763	0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser)	rs762304556	0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser)	rs1288483479	0.00001
NM_000360.4(TH):c.1010C>T (p.Pro337Leu)	rs2133692289
NM_000360.4(TH):c.1052T>C (p.Ile351Thr)	rs1554922725
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)	rs786204540
NM_000360.4(TH):c.203del (p.Leu68fs)	rs1554923852
NM_000360.4(TH):c.412C>T (p.Arg138Ter)
NM_000360.4(TH):c.601C>T (p.Gln201Ter)	rs1057517423
NM_000360.4(TH):c.641G>T (p.Arg214Met)

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