List of variants in gene PTH1R reported as likely pathogenic for bone disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000316.3(PTH1R):c.611T>A (p.Val204Glu)	rs769180471
NM_000316.3(PTH1R):c.723C>G (p.Asp241Glu)	rs2107040144
NM_000316.3(PTH1R):c.735C>G (p.Tyr245Ter)
NM_000316.3(PTH1R):c.75+1del
NM_000316.3(PTH1R):c.892T>G (p.Trp298Gly)
NM_000316.3(PTH1R):c.989-2A>G

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