ClinVar Miner

List of variants in gene TH reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 34
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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.487+3G>A rs11042950 0.00795
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000360.4(TH):c.1048-110A>C rs4072823
NM_000360.4(TH):c.1048-194G>C rs4072826
NM_000360.4(TH):c.313-38_313-35del rs200462975
NM_000360.4(TH):c.488-97dup rs147611260
NM_000360.4(TH):c.696-138G>A rs7925784
NM_000360.4(TH):c.91-53G>T rs1846208193

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