ClinVar Miner

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

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
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.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.363G>A (p.Pro121=) rs370429316 0.00042
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.594G>T (p.Val198=) rs544661832 0.00026
NM_000360.4(TH):c.1334+3G>C rs371566928 0.00024
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.679G>A (p.Glu227Lys) rs536382000 0.00017
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.91-828C>T rs764689284 0.00011
NM_000360.4(TH):c.1358G>A (p.Arg453His) rs759599321 0.00009
NM_000360.4(TH):c.23C>T (p.Thr8Met) rs373964946 0.00007
NM_000360.4(TH):c.104T>C (p.Ile35Thr) rs747420332 0.00006
NM_000360.4(TH):c.263C>T (p.Pro88Leu) rs150260759 0.00006
NM_000360.4(TH):c.398G>A (p.Arg133His) rs376881948 0.00005
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.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.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.292C>T (p.Arg98Ter) rs1057519220 0.00002
NM_000360.4(TH):c.598C>T (p.Arg200Cys) rs1220122709 0.00002
NM_000360.4(TH):c.729C>T (p.Tyr243=) rs878855308 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.614T>C (p.Leu205Pro) rs121917763 0.00001
NC_000011.10:g.2171856C>T rs1372180906
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
NM_000360.4(TH):c.1069G>A (p.Gly357Arg) rs886048114
NM_000360.4(TH):c.1104+6T>A rs1329692761
NM_000360.4(TH):c.1118C>T (p.Thr373Met) rs868563700
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1192G>A (p.Glu398Lys) rs746688975
NM_000360.4(TH):c.1287A>C (p.Ser429=) rs1590165106
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.1389G>T (p.Thr463=) rs370029424
NM_000360.4(TH):c.1487T>C (p.Ile496Thr) rs2049650632
NM_000360.4(TH):c.282G>A (p.Ser94=) rs75348531
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.696-3C>T rs1846117358
NM_000360.4(TH):c.696-4G>T rs750548460
NM_000360.4(TH):c.696-4_696-3delinsTT rs2133693900
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000360.4(TH):c.841+5G>A rs1846109018
NM_000360.4(TH):c.971C>T (p.Pro324Leu) rs777379609
NM_000360.4(TH):c.977+8C>T rs12419447

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