ClinVar Miner

List of variants studied for Dent disease type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 133
Download table as spreadsheet
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.*1292C>T rs781855238
NM_001127898.4(CLCN5):c.*1339A>G
NM_001127898.4(CLCN5):c.*1447T>G rs543285083
NM_001127898.4(CLCN5):c.*1625C>T
NM_001127898.4(CLCN5):c.*1735T>C rs782712129
NM_001127898.4(CLCN5):c.*1868T>C
NM_001127898.4(CLCN5):c.*1874G>A rs1053041096
NM_001127898.4(CLCN5):c.*1887G>C
NM_001127898.4(CLCN5):c.*1938G>A
NM_001127898.4(CLCN5):c.*2270A>G rs1057515936
NM_001127898.4(CLCN5):c.*2317G>A rs969354356
NM_001127898.4(CLCN5):c.*2324G>A rs782677531
NM_001127898.4(CLCN5):c.*2384A>C
NM_001127898.4(CLCN5):c.*2460G>A rs111452206
NM_001127898.4(CLCN5):c.*2479G>A rs782387568
NM_001127898.4(CLCN5):c.*2557A>G rs1057515938
NM_001127898.4(CLCN5):c.*2849C>T
NM_001127898.4(CLCN5):c.*2980A>G rs56147923
NM_001127898.4(CLCN5):c.*3071A>G rs1057515939
NM_001127898.4(CLCN5):c.*3090C>T rs1057515940
NM_001127898.4(CLCN5):c.*3091G>A
NM_001127898.4(CLCN5):c.*3388T>G
NM_001127898.4(CLCN5):c.*3409A>G rs59126550
NM_001127898.4(CLCN5):c.*3495A>G rs183523710
NM_001127898.4(CLCN5):c.*3627C>T rs1057515941
NM_001127898.4(CLCN5):c.*379G>C
NM_001127898.4(CLCN5):c.*3912C>T
NM_001127898.4(CLCN5):c.*3937C>A rs1057515942
NM_001127898.4(CLCN5):c.*3957C>G
NM_001127898.4(CLCN5):c.*39C>T
NM_001127898.4(CLCN5):c.*4034A>T rs782274908
NM_001127898.4(CLCN5):c.*4192C>T rs148902882
NM_001127898.4(CLCN5):c.*4297A>C rs868964422
NM_001127898.4(CLCN5):c.*4606A>C
NM_001127898.4(CLCN5):c.*4692C>T rs143625654
NM_001127898.4(CLCN5):c.*4740C>G
NM_001127898.4(CLCN5):c.*477G>A rs1035298488
NM_001127898.4(CLCN5):c.*4911G>A
NM_001127898.4(CLCN5):c.*504G>C rs1057515931
NM_001127898.4(CLCN5):c.*5088G>T
NM_001127898.4(CLCN5):c.*5140A>G rs182121138
NM_001127898.4(CLCN5):c.*5144C>T rs111560086
NM_001127898.4(CLCN5):c.*5240T>C
NM_001127898.4(CLCN5):c.*5340A>C
NM_001127898.4(CLCN5):c.*5377G>A
NM_001127898.4(CLCN5):c.*559A>G rs375542213
NM_001127898.4(CLCN5):c.*5815T>C rs1057515945
NM_001127898.4(CLCN5):c.*5844C>T
NM_001127898.4(CLCN5):c.*5895T>A rs1057515947
NM_001127898.4(CLCN5):c.*5970C>T
NM_001127898.4(CLCN5):c.*6163T>C
NM_001127898.4(CLCN5):c.*6217G>A rs781967731
NM_001127898.4(CLCN5):c.*6240G>C rs782177733
NM_001127898.4(CLCN5):c.*6372T>C rs573740499
NM_001127898.4(CLCN5):c.*6482C>T
NM_001127898.4(CLCN5):c.*6538G>A rs781863818
NM_001127898.4(CLCN5):c.*6608C>T rs1016988265
NM_001127898.4(CLCN5):c.*6638G>A rs963123113
NM_001127898.4(CLCN5):c.*6694C>T
NM_001127898.4(CLCN5):c.*6841T>C
NM_001127898.4(CLCN5):c.*6955C>G
NM_001127898.4(CLCN5):c.*866A>G
NM_001127898.4(CLCN5):c.*969A>G
NM_001127898.4(CLCN5):c.1012G>T (p.Glu338Ter)
NM_001127898.4(CLCN5):c.1025A>G (p.Tyr342Cys) rs273585644
NM_001127898.4(CLCN5):c.1044G>C (p.Leu348Phe) rs273585648
NM_001127898.4(CLCN5):c.1046G>A (p.Trp349Ter) rs797044809
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter) rs151340620
NM_001127898.4(CLCN5):c.1061C>T (p.Ala354Val) rs1060499698
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs)
NM_001127898.4(CLCN5):c.1203G>C (p.Leu401=) rs34122840
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His)
NM_001127898.4(CLCN5):c.1230C>A (p.Asn410Lys) rs273585646
NM_001127898.4(CLCN5):c.1243C>T (p.Arg415Trp) rs782817681
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs)
NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His) rs1569540369
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) rs199594074
NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter)
NM_001127898.4(CLCN5):c.1473C>T (p.Gly491=) rs145670120
NM_001127898.4(CLCN5):c.1488T>C (p.Ser496=)
NM_001127898.4(CLCN5):c.1557+1G>T rs1569540382
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter) rs797044811
NM_001127898.4(CLCN5):c.164-2118G>T rs957427726
NM_001127898.4(CLCN5):c.164-2130C>T
NM_001127898.4(CLCN5):c.164-2249C>T rs781792158
NM_001127898.4(CLCN5):c.164-2276G>A rs905143179
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.17-39087=
NM_001127898.4(CLCN5):c.1747G>A (p.Gly583Arg) rs273585647
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) rs797044812
NM_001127898.4(CLCN5):c.1768T>C (p.Ser590Pro) rs151340623
NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs)
NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs)
NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn)
NM_001127898.4(CLCN5):c.1816G>A (p.Val606Met) rs782060809
NM_001127898.4(CLCN5):c.1847A>G (p.Lys616Arg) rs273585649
NM_001127898.4(CLCN5):c.1849T>G (p.Trp617Gly) rs273585650
NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys)
NM_001127898.4(CLCN5):c.1872G>A (p.Arg624=)
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)
NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser)
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile) rs201962580
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser)
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.310C>T (p.Arg104Ter) rs797044808
NM_001127898.4(CLCN5):c.315+12G>A
NM_001127898.4(CLCN5):c.332_333del (p.Lys111fs)
NM_001127898.4(CLCN5):c.344G>A (p.Trp115Ter) rs1569540047
NM_001127898.4(CLCN5):c.416-6A>T rs6651602
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn)
NM_001127898.4(CLCN5):c.477_478dup (p.Cys160fs)
NM_001127898.4(CLCN5):c.554A>G (p.Lys185Arg)
NM_001127898.4(CLCN5):c.575G>A (p.Trp192Ter) rs1557192084
NM_001127898.4(CLCN5):c.636G>A (p.Met212Ile) rs34800648
NM_001127898.4(CLCN5):c.696G>A (p.Ala232=) rs140312372
NM_001127898.4(CLCN5):c.809T>G (p.Leu270Arg) rs151340622
NM_001127898.4(CLCN5):c.819= (p.Ser273=) rs34464675
NM_001127898.4(CLCN5):c.884T>C (p.Leu295Pro) rs273585645
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386
NM_001127898.4(CLCN5):c.933+3A>C rs1602123559
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001127898.4(CLCN5):c.942G>A (p.Ser314=)
NM_001127898.4(CLCN5):c.961G>A (p.Val321Ile)
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val) rs151340630
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.