ClinVar Miner

List of variants in gene TH reported as uncertain significance for Inborn genetic diseases

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.91-896G>A rs376736869 0.00012
NM_000360.4(TH):c.127G>A (p.Glu43Lys) rs772029518 0.00010
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000360.4(TH):c.1475C>T (p.Ala492Val) rs201219944 0.00008
NM_000360.4(TH):c.23C>T (p.Thr8Met) rs373964946 0.00007
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.1297G>A (p.Val433Met) rs772641972 0.00003
NM_000360.4(TH):c.649G>A (p.Asp217Asn) rs371488205 0.00003
NM_000360.4(TH):c.1348C>T (p.Arg450Cys) rs375084700 0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299 0.00002
NM_000360.4(TH):c.562G>C (p.Asp188His) rs757849221 0.00001
NM_000360.4(TH):c.91-892C>T rs775961364 0.00001
NM_000360.4(TH):c.1442G>A (p.Gly481Asp) rs564949885
NM_000360.4(TH):c.298G>A (p.Val100Met) rs1353856728
NM_000360.4(TH):c.344C>T (p.Thr115Ile) rs756013579
NM_000360.4(TH):c.428C>A (p.Ala143Asp)
NM_000360.4(TH):c.628G>T (p.Ala210Ser) rs1260455415
NM_000360.4(TH):c.700G>A (p.Glu234Lys)
NM_000360.4(TH):c.713C>G (p.Thr238Arg)
NM_000360.4(TH):c.848C>G (p.Thr283Arg) rs121917764
NM_000360.4(TH):c.97C>T (p.Arg33Trp)

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