ClinVar Miner

List of variants reported as pathogenic for Dent disease

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(?_49922616)_(50099235_?)del
NG_007159.3:g.(?_162979)_(164232_?)del
NG_007159.3:g.173054_173069dupinsAluYa5
NG_008638.1:g.(5550_9683)_(13328_22050)del
NM_000276.4(OCRL):c.1056+1G>A
NM_000276.4(OCRL):c.1245-1083G>A rs1936192276
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys) rs137853262
NM_000276.4(OCRL):c.1458G>A (p.Trp486Ter) rs2124410812
NM_000276.4(OCRL):c.1467-1G>A
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp) rs137853846
NM_000276.4(OCRL):c.1598T>C (p.Ile533Thr) rs2124412922
NM_000276.4(OCRL):c.167_168del (p.Ile56fs) rs2124388022
NM_000276.4(OCRL):c.2078C>T (p.Pro693Leu) rs1936370877
NM_000276.4(OCRL):c.217_218del (p.Leu73fs) rs2124392540
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter) rs1602819835
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.4(OCRL):c.940-11G>A rs776743373
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
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.1049G>C (p.Arg350Pro) rs151340628
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs) rs1933891368
NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter) rs151340627
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.1727G>A (p.Gly576Glu) rs151340625
NM_001127898.4(CLCN5):c.1768T>C (p.Ser590Pro) rs151340623
NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs) rs1934037265
NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs) rs1934037561
NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn) rs1934039336
NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys) rs1934041295
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.2236del (p.Thr746fs) rs1934069016
NM_001127898.4(CLCN5):c.2295del (p.Met766fs) rs1569540520
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
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.334G>T (p.Glu112Ter) rs1933255436
NM_001127898.4(CLCN5):c.344G>A (p.Trp115Ter) rs1569540047
NM_001127898.4(CLCN5):c.380G>T (p.Gly127Val) rs151340629
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.941C>T (p.Ser314Leu) rs151340626
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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