ClinVar Miner

List of variants in gene CLCN5 reported as pathogenic for rickets

Included ClinVar conditions (21):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)	rs1049618423
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)	rs151340626
Single allele

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