ClinVar Miner

List of variants in gene PTH1R studied for Primary failure of tooth eruption

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000316.3(PTH1R):c.1389T>C (p.Asn463=) rs1138518 0.66388
NM_000316.3(PTH1R):c.440G>A (p.Arg147His) rs576428067 0.00001
NM_000316.3(PTH1R):c.1050-3C>G rs1575524795
NM_000316.3(PTH1R):c.1325_1336del (p.His442_Met445del) rs2545050758
NM_000316.3(PTH1R):c.178+28G>T rs724450
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
NM_000316.3(PTH1R):c.915C>G (p.Tyr305Ter) rs1575522892

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