ClinVar Miner

List of variants reported as pathogenic for Eiken syndrome by OMIM

Included ClinVar conditions (3):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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.401A>C (p.Tyr134Ser)	rs1575520937

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