ClinVar Miner

List of variants in gene PTH1R reported as pathogenic for primary failure of tooth eruption

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000316.3(PTH1R):c.1050-3C>G rs1575524795
NM_000316.3(PTH1R):c.463G>T (p.Glu155Ter) rs121434605
NM_000316.3(PTH1R):c.543+1G>A rs2107035467
NM_000316.3(PTH1R):c.611T>A (p.Val204Glu) rs769180471
NM_000316.3(PTH1R):c.639-2A>G rs2107039234
NM_000316.3(PTH1R):c.668A>G (p.His223Arg) rs121434597

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