List of variants in gene TH reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.684G>A (p.Glu228=)	rs11564716	0.00706
NM_000360.4(TH):c.16G>A (p.Ala6Thr)	rs74555599	0.00462
NM_000360.4(TH):c.1398C>T (p.Ile466=)	rs118175546	0.00056
NM_000360.4(TH):c.897C>T (p.Phe299=)	rs76719766	0.00054
NM_000360.4(TH):c.594G>T (p.Val198=)	rs544661832	0.00026
NM_000360.4(TH):c.1368C>T (p.Ser456=)	rs45538536	0.00023
NM_000360.4(TH):c.12C>T (p.Pro4=)	rs147131010	0.00022
NM_000360.4(TH):c.91-828C>T	rs764689284	0.00011
NM_000360.4(TH):c.1296C>T (p.Phe432=)	rs760210103	0.00004
NM_000360.4(TH):c.24G>A (p.Thr8=)	rs529205525	0.00004
NM_000360.4(TH):c.459G>A (p.Glu153=)	rs373986982	0.00003
NM_000360.4(TH):c.1377C>T (p.Phe459=)	rs575305786	0.00002
NM_000360.4(TH):c.288G>C (p.Leu96=)	rs151082354	0.00002
NM_000360.4(TH):c.729C>T (p.Tyr243=)	rs878855308	0.00002
NM_000360.4(TH):c.1170C>G (p.Ala390=)	rs199839852
NM_000360.4(TH):c.1287A>C (p.Ser429=)	rs1590165106
NM_000360.4(TH):c.1389G>T (p.Thr463=)	rs370029424
NM_000360.4(TH):c.282G>A (p.Ser94=)	rs75348531
NM_000360.4(TH):c.696-3C>T	rs1846117358
NM_000360.4(TH):c.696-4G>T	rs750548460

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