List of variants in gene TH reported as uncertain significance 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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.1255G>A (p.Val419Met)	rs184106392	0.00034
NM_000360.4(TH):c.91-891G>A	rs371277838	0.00029
NM_000360.4(TH):c.67G>A (p.Ala23Thr)	rs201081519	0.00028
NM_000360.4(TH):c.1334+3G>C	rs371566928	0.00024
NM_000360.4(TH):c.679G>A (p.Glu227Lys)	rs536382000	0.00017
NM_000360.4(TH):c.91-896G>A	rs376736869	0.00012
NM_000360.4(TH):c.1358G>A (p.Arg453His)	rs759599321	0.00009
NM_000360.4(TH):c.104T>C (p.Ile35Thr)	rs747420332	0.00006
NM_000360.4(TH):c.398G>A (p.Arg133His)	rs376881948	0.00005
NM_000360.4(TH):c.599G>A (p.Arg200His)	rs201224335	0.00004
NM_000360.4(TH):c.653C>T (p.Pro218Leu)	rs377729019	0.00004
NM_000360.4(TH):c.90+7G>T	rs746965239	0.00004
NM_000360.4(TH):c.598C>T (p.Arg200Cys)	rs1220122709	0.00002
NM_000360.4(TH):c.98G>A (p.Arg33Gln)	rs996766545	0.00002
NM_000360.4(TH):c.185C>T (p.Ser62Leu)	rs574633942	0.00001
NM_000360.4(TH):c.447C>A (p.Arg149=)	rs1288293766	0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu)	rs139474171	0.00001
NM_000360.4(TH):c.1069G>A (p.Gly357Arg)	rs886048114
NM_000360.4(TH):c.1104+6T>A	rs1329692761
NM_000360.4(TH):c.1192G>A (p.Glu398Lys)	rs746688975
NM_000360.4(TH):c.1316A>G (p.Asp439Gly)	rs1180028449
NM_000360.4(TH):c.1487T>C (p.Ile496Thr)	rs2049650632
NM_000360.4(TH):c.443T>C (p.Val148Ala)	rs942789428
NM_000360.4(TH):c.466C>T (p.Arg156Cys)
NM_000360.4(TH):c.585G>C (p.Ser195=)	rs376615793
NM_000360.4(TH):c.696-4_696-3delinsTT	rs2133693900

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