List of variants in gene TH reported as uncertain significance for not provided

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: 80

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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.627C>G (p.Ile209Met)	rs202149985	0.00031
NM_000360.4(TH):c.406G>A (p.Val136Met)	rs142046543	0.00029
NM_000360.4(TH):c.67G>A (p.Ala23Thr)	rs201081519	0.00029
NM_000360.4(TH):c.91-891G>A	rs371277838	0.00029
NM_000360.4(TH):c.679G>A (p.Glu227Lys)	rs536382000	0.00025
NM_000360.4(TH):c.1334+3G>C	rs371566928	0.00024
NM_000360.4(TH):c.391T>G (p.Phe131Val)	rs200536568	0.00017
NM_000360.4(TH):c.97C>T (p.Arg33Trp)	rs1031644143	0.00015
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.452T>C (p.Val151Ala)	rs147569564	0.00008
NM_000360.4(TH):c.263C>T (p.Pro88Leu)	rs150260759	0.00007
NM_000360.4(TH):c.104T>C (p.Ile35Thr)	rs747420332	0.00006
NM_000360.4(TH):c.23C>T (p.Thr8Met)	rs373964946	0.00006
NM_000360.4(TH):c.645C>T (p.His215=)	rs768037080	0.00006
NM_000360.4(TH):c.110G>A (p.Arg37His)	rs368122376	0.00005
NM_000360.4(TH):c.362C>T (p.Pro121Leu)	rs760017478	0.00005
NM_000360.4(TH):c.398G>A (p.Arg133His)	rs376881948	0.00005
NM_000360.4(TH):c.550G>A (p.Asp184Asn)	rs139807727	0.00005
NM_000360.4(TH):c.304G>T (p.Val102Leu)	rs372077622	0.00004
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.950C>G (p.Ala317Gly)	rs370710158	0.00004
NM_000360.4(TH):c.1277C>T (p.Thr426Met)	rs201330304	0.00003
NM_000360.4(TH):c.52G>A (p.Val18Met)	rs776878220	0.00003
NM_000360.4(TH):c.676G>A (p.Ala226Thr)	rs549188961	0.00003
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.598C>T (p.Arg200Cys)	rs1220122709	0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg)	rs755536257	0.00002
NM_000360.4(TH):c.98G>A (p.Arg33Gln)	rs996766545	0.00002
NM_000360.4(TH):c.1118C>T (p.Thr373Met)	rs868563700	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.1378G>A (p.Asp460Asn)	rs374629948	0.00001
NM_000360.4(TH):c.1487T>C (p.Ile496Thr)	rs2049650632	0.00001
NM_000360.4(TH):c.155C>T (p.Ala52Val)	rs1338337952	0.00001
NM_000360.4(TH):c.185C>T (p.Ser62Leu)	rs574633942	0.00001
NM_000360.4(TH):c.409C>T (p.Arg137Cys)	rs548495726	0.00001
NM_000360.4(TH):c.446G>T (p.Arg149Leu)	rs1357867110	0.00001
NM_000360.4(TH):c.447C>A (p.Arg149=)	rs1288293766	0.00001
NM_000360.4(TH):c.458A>G (p.Glu153Gly)	rs766666741	0.00001
NM_000360.4(TH):c.517C>A (p.Leu173Met)	rs1468608879	0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu)	rs139474171	0.00001
NM_000360.4(TH):c.649G>A (p.Asp217Asn)	rs371488205	0.00001
NM_000360.4(TH):c.818A>G (p.Glu273Gly)	rs1846110049	0.00001
NM_000360.4(TH):c.923T>G (p.Phe308Cys)	rs1333454331	0.00001
NM_000360.4(TH):c.1047G>C (p.Gln349His)
NM_000360.4(TH):c.1069G>A (p.Gly357Arg)	rs886048114
NM_000360.4(TH):c.1104+4G>T	rs747560095
NM_000360.4(TH):c.1104+6T>A	rs1329692761
NM_000360.4(TH):c.1192G>A (p.Glu398Lys)	rs746688975
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	rs575326605
NM_000360.4(TH):c.1229G>T (p.Arg410Leu)	rs367874223
NM_000360.4(TH):c.1240C>A (p.Pro414Thr)
NM_000360.4(TH):c.1316A>G (p.Asp439Gly)	rs1180028449
NM_000360.4(TH):c.1318G>T (p.Ala440Ser)	rs374465917
NM_000360.4(TH):c.1430G>C (p.Arg477Pro)
NM_000360.4(TH):c.205G>C (p.Glu69Gln)
NM_000360.4(TH):c.220GAG[1] (p.Glu75del)	rs2133699767
NM_000360.4(TH):c.251T>C (p.Leu84Pro)
NM_000360.4(TH):c.284C>G (p.Ala95Gly)	rs769126179
NM_000360.4(TH):c.342G>A (p.Glu114=)	rs886038763
NM_000360.4(TH):c.344C>T (p.Thr115Ile)	rs756013579
NM_000360.4(TH):c.443T>C (p.Val148Ala)	rs942789428
NM_000360.4(TH):c.44G>A (p.Arg15His)	rs199648386
NM_000360.4(TH):c.466C>T (p.Arg156Cys)	rs762552586
NM_000360.4(TH):c.488-17C>G	rs918432885
NM_000360.4(TH):c.585G>C (p.Ser195=)	rs376615793
NM_000360.4(TH):c.686T>C (p.Ile229Thr)
NM_000360.4(TH):c.696-4_696-3delinsTT	rs2133693900
NM_000360.4(TH):c.706T>G (p.Tyr236Asp)	rs2133693875
NM_000360.4(TH):c.748G>C (p.Glu250Gln)	rs794727937
NM_000360.4(TH):c.799G>C (p.Asp267His)	rs1057524283
NM_000360.4(TH):c.81G>T (p.Glu27Asp)	rs139742336
NM_000360.4(TH):c.841+5G>A	rs1846109018
NM_000360.4(TH):c.977+8C>T	rs12419447
NM_000360.4(TH):c.991G>A (p.Glu331Lys)

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