List of variants in gene CLCN5 reported as 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: 26

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HGVS	dbSNP	gnomAD frequency
NG_007159.3:g.(?_162979)_(164232_?)del
NG_007159.3:g.173054_173069dupinsAluYa5
NM_001127898.4(CLCN5):c.1012G>T (p.Glu338Ter)	rs1933873534
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter)	rs151340620
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs)	rs1933891368
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter)	rs797044810
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs)	rs1933898062
NM_001127898.4(CLCN5):c.1386_1387del (p.Cys462fs)	rs2147596542
NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His)	rs1569540369
NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter)	rs1933903437
NM_001127898.4(CLCN5):c.1452del (p.Glu484fs)
NM_001127898.4(CLCN5):c.1557+1G>T	rs1569540382
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter)	rs797044811
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter)	rs1557194353
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter)	rs797044814
NM_001127898.4(CLCN5):c.2393_2415del (p.Val798fs)	rs797044815
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)	rs1049618423
NM_001127898.4(CLCN5):c.344G>A (p.Trp115Ter)	rs1569540047
NM_001127898.4(CLCN5):c.477_478dup (p.Cys160fs)	rs1933380245
NM_001127898.4(CLCN5):c.575G>A (p.Trp192Ter)	rs1557192084
NM_001127898.4(CLCN5):c.667del (p.Ala224fs)
NM_001127898.4(CLCN5):c.809T>G (p.Leu270Arg)	rs151340622
NM_001127898.4(CLCN5):c.933+2T>C	rs2147582103
NM_001127898.4(CLCN5):c.976G>C (p.Gly326Arg)	rs2147594126
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val)	rs151340630
Single allele

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