List of variants in gene CLCN5 reported as likely pathogenic for Dent disease type 1

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys)	rs782056386	0.00006
NM_001127898.4(CLCN5):c.1014+1G>A	rs2147594243
NM_001127898.4(CLCN5):c.1517_1518dup (p.Leu507fs)
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs)	rs1933979876
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter)	rs1557194353
NM_001127898.4(CLCN5):c.1730del (p.Ala577fs)	rs1933984291
NM_001127898.4(CLCN5):c.315G>A (p.Glu105=)
NM_001127898.4(CLCN5):c.332_333del (p.Lys111fs)	rs1933254834
NM_001127898.4(CLCN5):c.379G>C (p.Gly127Arg)	rs782720805
NM_001127898.4(CLCN5):c.384G>C (p.Trp128Cys)	rs1933257247
NM_001127898.4(CLCN5):c.746G>T (p.Gly249Val)
NM_001127898.4(CLCN5):c.776G>A (p.Trp259Ter)
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg)	rs1933713383

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