ClinVar Miner

List of variants in gene PTH1R studied for chondrodysplasia

Included ClinVar conditions (1):

Chondrodysplasia

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000316.3(PTH1R):c.*127dup	rs142021243
NM_000316.3(PTH1R):c.1050-3dup	rs754628395

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