List of variants in gene PTH1R studied for Eiken syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000316.3(PTH1R):c.1389T>C (p.Asn463=)	rs1138518	0.66915
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys)	rs1559532562
NM_000316.3(PTH1R):c.1453C>T (p.Arg485Ter)	rs121434603
NM_000316.3(PTH1R):c.178+28G>T	rs724450
NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser)	rs1575520937

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