ClinVar Miner

Variants in gene TH with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.733A>C (p.Thr245Pro) rs28934581 0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764 0.00001
NM_000360.4(TH):c.1010C>T (p.Pro337Leu) rs2133692289
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) rs1554922725
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.724C>T (p.Leu242Phe) rs1457094087
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580

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