List of variants in gene TH reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 90

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.695+99G>A	rs7925924	0.91244
NM_000360.4(TH):c.696-126C>G	rs7942881	0.91226
NM_000360.4(TH):c.1048-189G>A	rs7483805	0.91215
NM_000360.4(TH):c.1105-78A>G	rs6578990	0.90803
NM_000360.4(TH):c.91-54A>G	rs7925375	0.68900
NM_000360.4(TH):c.1048-151G>T	rs4072824	0.64562
NM_000360.4(TH):c.577-22C>T	rs4074905	0.62210
NM_000360.4(TH):c.1048-167A>C	rs7479936	0.59174
NM_000360.4(TH):c.1334+127T>C	rs2070762	0.42406
NM_000360.4(TH):c.241G>A (p.Val81Met)	rs6356	0.31555
NM_000360.4(TH):c.91-608G>A	rs11564713	0.31214
NM_000360.4(TH):c.977+8C>G	rs12419447	0.27597
NM_000360.4(TH):c.696-174T>C	rs67482701	0.24839
NM_000360.4(TH):c.720G>A (p.Lys240=)	rs6357	0.23916
NM_000360.4(TH):c.313-88G>A	rs4930043	0.22682
NM_000360.4(TH):c.312+289G>C	rs7482510	0.17720
NM_000360.4(TH):c.90+129G>A	rs10840489	0.14366
NC_000011.10:g.2163897C>G	rs3842726	0.08474
NM_000360.4(TH):c.1200+53G>A	rs11825601	0.07151
NM_000360.4(TH):c.1048-154G>T	rs4072825	0.05136
NM_000360.4(TH):c.210T>C (p.Ala70=)	rs7950050	0.03941
NM_000360.4(TH):c.186G>A (p.Ser62=)	rs34510659	0.02696
NM_000360.4(TH):c.1200+83A>T	rs74588395	0.02388
NM_000360.4(TH):c.91-282G>C	rs73403745	0.01672
NM_000360.4(TH):c.1035G>T (p.Ala345=)	rs11826260	0.01611
NM_000360.4(TH):c.1334+38C>T	rs114936120	0.01529
NM_000360.4(TH):c.645-74A>T	rs73403741	0.01330
NM_000360.4(TH):c.1335-95T>C	rs3842723	0.01177
NM_000360.4(TH):c.91-528G>C	rs111400555	0.01061
NM_000360.4(TH):c.487+3G>A	rs11042950	0.00795
NM_000360.4(TH):c.684G>A (p.Glu228=)	rs11564716	0.00706
NM_000360.4(TH):c.579C>T (p.Gly193=)	rs147852210	0.00547
NC_000011.10:g.2172174G>A	rs149761341	0.00535
NM_000360.4(TH):c.16G>A (p.Ala6Thr)	rs74555599	0.00462
NM_000360.4(TH):c.644+80A>G	rs188105919	0.00449
NM_000360.4(TH):c.267G>A (p.Arg89=)	rs76240471	0.00359
NM_000360.4(TH):c.695+39G>A	rs73403740	0.00277
NM_000360.4(TH):c.1105-48G>A	rs371445115	0.00076
NM_000360.4(TH):c.1398C>T (p.Ile466=)	rs118175546	0.00056
NM_000360.4(TH):c.406G>A (p.Val136Met)	rs142046543	0.00029
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.391T>G (p.Phe131Val)	rs200536568	0.00017
NM_000360.4(TH):c.585G>A (p.Ser195=)	rs376615793	0.00016
NM_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892	0.00014
NM_000360.4(TH):c.91-896G>A	rs376736869	0.00012
NM_000360.4(TH):c.452T>C (p.Val151Ala)	rs147569564	0.00010
NM_000360.4(TH):c.576+6_576+14del	rs775531779	0.00008
NM_000360.4(TH):c.645C>T (p.His215=)	rs768037080	0.00007
NM_000360.4(TH):c.263C>T (p.Pro88Leu)	rs150260759	0.00006
NM_000360.4(TH):c.362C>T (p.Pro121Leu)	rs760017478	0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn)	rs139807727	0.00006
NM_000360.4(TH):c.398G>A (p.Arg133His)	rs376881948	0.00005
NM_000360.4(TH):c.1061C>T (p.Ala354Val)	rs763039181	0.00002
NM_000360.4(TH):c.1229G>A (p.Arg410Gln)	rs367874223	0.00002
NM_000360.4(TH):c.288G>C (p.Leu96=)	rs151082354	0.00002
NM_000360.4(TH):c.292C>T (p.Arg98Ter)	rs1057519220	0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752	0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg)	rs755536257	0.00002
NM_000360.4(TH):c.1103C>T (p.Thr368Met)	rs1057520384	0.00001
NM_000360.4(TH):c.1154T>C (p.Val385Ala)	rs573129039	0.00001
NM_000360.4(TH):c.1361C>A (p.Pro454His)	rs776457245	0.00001
NM_000360.4(TH):c.155C>T (p.Ala52Val)	rs1338337952	0.00001
NM_000360.4(TH):c.446G>T (p.Arg149Leu)	rs1357867110	0.00001
NM_000360.4(TH):c.458A>G (p.Glu153Gly)	rs766666741	0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser)	rs762304556	0.00001
NM_000360.4(TH):c.923T>G (p.Phe308Cys)	rs1333454331	0.00001
NM_000360.4(TH):c.1048-109G>A	rs544883336
NM_000360.4(TH):c.1048-110A>C	rs4072823
NM_000360.4(TH):c.1048-194G>C	rs4072826
NM_000360.4(TH):c.1170C>G (p.Ala390=)	rs199839852
NM_000360.4(TH):c.1201-75G>A	rs116831738
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	rs575326605
NM_000360.4(TH):c.1318G>T (p.Ala440Ser)	rs374465917
NM_000360.4(TH):c.1334+303C>T	rs3842722
NM_000360.4(TH):c.220GAG[1] (p.Glu75del)	rs2133699767
NM_000360.4(TH):c.313-38_313-35del	rs200462975
NM_000360.4(TH):c.344C>T (p.Thr115Ile)	rs756013579
NM_000360.4(TH):c.44G>A (p.Arg15His)	rs199648386
NM_000360.4(TH):c.488-17C>G	rs918432885
NM_000360.4(TH):c.488-97dup	rs147611260
NM_000360.4(TH):c.656T>C (p.Ile219Thr)	rs1064795631
NM_000360.4(TH):c.696-138G>A	rs7925784
NM_000360.4(TH):c.706T>G (p.Tyr236Asp)	rs2133693875
NM_000360.4(TH):c.799G>C (p.Asp267His)	rs1057524283
NM_000360.4(TH):c.818A>G (p.Glu273Gly)
NM_000360.4(TH):c.81G>T (p.Glu27Asp)	rs139742336
NM_000360.4(TH):c.91-53G>T	rs1846208193
NM_000360.4(TH):c.91-732C>T	rs75888017

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