ClinVar Miner

List of variants in gene LOC129936652, PTH1R studied for Eiken syndrome

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000316.3(PTH1R):c.375G>A (p.Glu125=)	rs138339848	0.00034
NM_000316.3(PTH1R):c.364G>A (p.Ala122Thr)	rs200197785	0.00001
NM_000316.3(PTH1R):c.357G>C (p.Pro119=)
NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu)	rs121434599

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