ClinVar Miner

List of variants reported as pathogenic for Dent disease type 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
CLCN5, ALU INS, EX11
NC_000023.11:g.(?_49922616)_(50099235_?)del
NG_007159.3:g.(?_162979)_(164232_?)del
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter) rs151340620
NM_001127898.4(CLCN5):c.1049G>C (p.Arg350Pro) rs151340628
NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter) rs151340627
NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His) rs1569540369
NM_001127898.4(CLCN5):c.1557+1G>T rs1569540382
NM_001127898.4(CLCN5):c.1768T>C (p.Ser590Pro) rs151340623
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter) rs151340621
NM_001127898.4(CLCN5):c.2295del (p.Met766fs) rs1569540520
NM_001127898.4(CLCN5):c.344G>A (p.Trp115Ter) rs1569540047
NM_001127898.4(CLCN5):c.809T>G (p.Leu270Arg) rs151340622
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val) rs151340630
NM_001127899.4(CLCN5):c.1025A>G (p.Tyr342Cys) rs273585644
NM_001127899.4(CLCN5):c.1044G>C (p.Leu348Phe) rs273585648
NM_001127899.4(CLCN5):c.1046G>A (p.Trp349Ter) rs797044809
NM_001127899.4(CLCN5):c.1230C>A (p.Asn410Lys) rs273585646
NM_001127899.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127899.4(CLCN5):c.1609C>T (p.Arg537Ter) rs797044811
NM_001127899.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127899.4(CLCN5):c.1747G>A (p.Gly583Arg) rs273585647
NM_001127899.4(CLCN5):c.1847A>G (p.Lys616Arg) rs273585649
NM_001127899.4(CLCN5):c.1849T>G (p.Trp617Gly) rs273585650
NM_001127899.4(CLCN5):c.2362C>T (p.Arg788Ter) rs797044814
NM_001127899.4(CLCN5):c.2393_2415del (p.Val798fs) rs797044815
NM_001127899.4(CLCN5):c.310C>T (p.Arg104Ter) rs797044808
NM_001127899.4(CLCN5):c.575G>A (p.Trp192Ter) rs1557192084
NM_001127899.4(CLCN5):c.884T>C (p.Leu295Pro) rs273585645
Single allele

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