List of variants in gene PTH1R reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000316.3(PTH1R):c.1148G>A (p.Arg383Gln)	rs398122843	0.00001
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys)	rs1559532562
NM_000316.3(PTH1R):c.1049+29C>T	rs2107055197
NM_000316.3(PTH1R):c.1050-3C>G	rs1575524795
NM_000316.3(PTH1R):c.1093del (p.Val365fs)
NM_000316.3(PTH1R):c.1228A>C (p.Thr410Pro)	rs121434598
NM_000316.3(PTH1R):c.1229C>G (p.Thr410Arg)	rs121434602
NM_000316.3(PTH1R):c.1373T>G (p.Ile458Arg)	rs121434600
NM_000316.3(PTH1R):c.1453C>T (p.Arg485Ter)	rs121434603
NM_000316.3(PTH1R):c.310C>T (p.Arg104Ter)	rs121434604
NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser)	rs1575520937
NM_000316.3(PTH1R):c.463G>T (p.Glu155Ter)	rs121434605
NM_000316.3(PTH1R):c.543+1G>A	rs2107035467
NM_000316.3(PTH1R):c.668A>G (p.His223Arg)	rs121434597

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