ClinVar Miner

List of variants in gene TH reported by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.1048-110A>C rs4072823 0.99112
NM_000360.4(TH):c.695+99G>A rs7925924 0.91868
NM_000360.4(TH):c.696-126C>G rs7942881 0.91851
NM_000360.4(TH):c.1048-189G>A rs7483805 0.91844
NM_000360.4(TH):c.1105-78A>G rs6578990 0.91463
NM_000360.4(TH):c.1048-194G>C rs4072826 0.70288
NM_000360.4(TH):c.91-54A>G rs7925375 0.69448
NM_000360.4(TH):c.1048-151G>T rs4072824 0.65839
NM_000360.4(TH):c.577-22C>T rs4074905 0.62210
NM_000360.4(TH):c.1048-167A>C rs7479936 0.60805
NM_000360.4(TH):c.1334+127T>C rs2070762 0.42979
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 0.24336
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_000360.4(TH):c.313-88G>A rs4930043 0.22256
NM_000360.4(TH):c.90+129G>A rs10840489 0.14366
NC_000011.10:g.2163897C>G rs3842726 0.07882
NM_000360.4(TH):c.1200+53G>A rs11825601 0.07151
NM_000360.4(TH):c.1048-154G>T rs4072825 0.04758
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 0.02227
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_000360.4(TH):c.645-74A>T rs73403741 0.01330
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.267G>A (p.Arg89=) rs76240471 0.00521
NM_000360.4(TH):c.579C>T (p.Gly193=) rs147852210 0.00494
NM_000360.4(TH):c.644+80A>G rs188105919 0.00449
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00402
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.67G>A (p.Ala23Thr) rs201081519 0.00029
NM_000360.4(TH):c.372G>A (p.Gly124=) rs773806238 0.00014
NM_000360.4(TH):c.950C>G (p.Ala317Gly) rs370710158 0.00004
NM_000360.4(TH):c.517C>A (p.Leu173Met) rs1468608879 0.00001
NM_000360.4(TH):c.1048-109G>A rs544883336
NM_000360.4(TH):c.1104+4G>T rs747560095
NM_000360.4(TH):c.1201-75G>A rs116831738
NM_000360.4(TH):c.1229G>T (p.Arg410Leu) rs367874223
NM_000360.4(TH):c.696-138G>A rs7925784
NM_000360.4(TH):c.91-732C>T rs75888017

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