ClinVar Miner

List of variants in gene PTH1R reported as uncertain significance for Eiken syndrome

Included ClinVar conditions (1):

Eiken skeletal dysplasia

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys)	rs1559532562

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