ClinVar Miner

List of variants in gene CLCN5 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127898.4(CLCN5):c.1558-14G>C rs7063765 0.16646
NM_001127898.4(CLCN5):c.*3652T>C rs56657044 0.12053
NM_001127898.4(CLCN5):c.*5956T>C rs932286 0.11938
NM_001127898.4(CLCN5):c.*3255C>T rs112868450 0.06187
NM_001127898.4(CLCN5):c.*5144C>T rs111560086 0.04593
NM_001127898.4(CLCN5):c.1203G>C (p.Leu401=) rs34122840 0.04506
NM_001127898.4(CLCN5):c.*2860T>C rs140913229 0.04145
NM_001127898.4(CLCN5):c.*869A>G rs139746970 0.01794
NM_001127898.4(CLCN5):c.*3409A>G rs59126550 0.01695
NM_001127898.4(CLCN5):c.416-6A>T rs6651602 0.01679
NM_001127898.4(CLCN5):c.*4192C>T rs148902882 0.01144
NM_001127898.4(CLCN5):c.*4692C>T rs143625654 0.00773
NM_001127898.4(CLCN5):c.636G>A (p.Met212Ile) rs34800648 0.00771
NM_001127898.4(CLCN5):c.*349G>A rs111438914 0.00485
NM_001127898.4(CLCN5):c.*6143C>T rs141665472 0.00336
NM_001127898.4(CLCN5):c.*3495A>G rs183523710 0.00296
NM_001127898.4(CLCN5):c.*6955C>G rs186369163 0.00273
NM_001127898.4(CLCN5):c.*6217G>A rs781967731 0.00151
NM_001127898.4(CLCN5):c.1473C>T (p.Gly491=) rs145670120 0.00136
NM_001127898.4(CLCN5):c.*2980A>G rs56147923 0.00116
NM_001127898.4(CLCN5):c.*4740C>G rs781970249 0.00102
NM_001127898.4(CLCN5):c.*1723G>A rs781902814 0.00097
NM_001127898.4(CLCN5):c.*1470C>T rs186889927 0.00094
NM_001127898.4(CLCN5):c.*6240G>C rs782177733 0.00073
NM_001127898.4(CLCN5):c.164-2301G>A rs781805006 0.00063
NM_001127898.4(CLCN5):c.164-2333T>G rs41310663 0.00059
NM_001127898.4(CLCN5):c.554A>G (p.Lys185Arg) rs55676763 0.00051
NM_001127898.4(CLCN5):c.*6163T>C rs41312128 0.00050
NM_001127898.4(CLCN5):c.*4034A>T rs782274908 0.00042
NM_001127898.4(CLCN5):c.*1292C>T rs781855238 0.00041
NM_001127898.4(CLCN5):c.*5140A>G rs182121138 0.00027
NM_001127898.4(CLCN5):c.*2479G>A rs782387568 0.00018
NM_001127898.4(CLCN5):c.*6538G>A rs781863818 0.00016
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) rs199594074 0.00015
NM_001127898.4(CLCN5):c.*6638G>A rs963123113 0.00014
NM_001127898.4(CLCN5):c.*3091G>A rs782521596 0.00013
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His) rs781790886 0.00013
NM_001127898.4(CLCN5):c.164-2130C>T rs782456542 0.00012
NM_001127898.4(CLCN5):c.*2324G>A rs782677531 0.00011
NM_001127898.4(CLCN5):c.*4297A>C rs868964422 0.00009
NM_001127898.4(CLCN5):c.*4606A>C rs1024086673 0.00009
NM_001127898.4(CLCN5):c.164-2249C>T rs781792158 0.00009
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_001127898.4(CLCN5):c.*1874G>A rs1053041096 0.00008
NM_001127898.4(CLCN5):c.*5088G>T rs1024034661 0.00008
NM_001127898.4(CLCN5):c.*2384A>C rs1349157919 0.00007
NM_001127898.4(CLCN5):c.*5377G>A rs1397080511 0.00006
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386 0.00006
NM_001127898.4(CLCN5):c.*1339A>G rs782530331 0.00005
NM_001127898.4(CLCN5):c.*1887G>C rs782403661 0.00005
NM_001127898.4(CLCN5):c.*6482C>T rs997377113 0.00005
NM_001127898.4(CLCN5):c.1243C>T (p.Arg415Trp) rs782817681 0.00005
NM_001127898.4(CLCN5):c.1244G>A (p.Arg415Gln) rs190451218 0.00005
NM_001127898.4(CLCN5):c.164-2276G>A rs905143179 0.00005
NM_001127898.4(CLCN5):c.*2317G>A rs969354356 0.00004
NM_001127898.4(CLCN5):c.*2460G>A rs111452206 0.00004
NM_001127898.4(CLCN5):c.*559A>G rs375542213 0.00004
NM_001127898.4(CLCN5):c.*6372T>C rs573740499 0.00004
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) rs782412118 0.00004
NM_001127898.4(CLCN5):c.942G>A (p.Ser314=) rs782320623 0.00004
NM_001127898.4(CLCN5):c.*1625C>T rs1354057843 0.00003
NM_001127898.4(CLCN5):c.*3090C>T rs1057515940 0.00003
NM_001127898.4(CLCN5):c.*3912C>T rs1235435896 0.00003
NM_001127898.4(CLCN5):c.*4911G>A rs1189982201 0.00003
NM_001127898.4(CLCN5):c.*5895T>A rs1057515947 0.00003
NM_001127898.4(CLCN5):c.*6608C>T rs1016988265 0.00003
NM_001127898.4(CLCN5):c.1251A>G (p.Arg417=) rs782591993 0.00003
NM_001127898.4(CLCN5):c.164-2118G>T rs957427726 0.00003
NM_001127898.4(CLCN5):c.*1447T>G rs543285083 0.00002
NM_001127898.4(CLCN5):c.*1735T>C rs782712129 0.00002
NM_001127898.4(CLCN5):c.*2270A>G rs1057515936 0.00002
NM_001127898.4(CLCN5):c.*2849C>T rs969468804 0.00002
NM_001127898.4(CLCN5):c.*477G>A rs1035298488 0.00002
NM_001127898.4(CLCN5):c.*866A>G rs1323934459 0.00002
NM_001127898.4(CLCN5):c.696G>A (p.Ala232=) rs140312372 0.00002
NM_001127898.4(CLCN5):c.*1868T>C rs1934188059 0.00001
NM_001127898.4(CLCN5):c.*1938G>A rs1234577943 0.00001
NM_001127898.4(CLCN5):c.*3627C>T rs1057515941 0.00001
NM_001127898.4(CLCN5):c.*3937C>A rs1057515942 0.00001
NM_001127898.4(CLCN5):c.*39C>T rs781818466 0.00001
NM_001127898.4(CLCN5):c.*5340A>C rs1234568435 0.00001
NM_001127898.4(CLCN5):c.*5844C>T rs957036730 0.00001
NM_001127898.4(CLCN5):c.1488T>C (p.Ser496=) rs781920581 0.00001
NM_001127898.4(CLCN5):c.*1160del rs782607038
NM_001127898.4(CLCN5):c.*1564_*1567del rs1057515934
NM_001127898.4(CLCN5):c.*2557A>G rs1057515938
NM_001127898.4(CLCN5):c.*3071A>G rs1057515939
NM_001127898.4(CLCN5):c.*3388T>G rs1934238784
NM_001127898.4(CLCN5):c.*379G>C rs782172153
NM_001127898.4(CLCN5):c.*3957C>G rs1934256135
NM_001127898.4(CLCN5):c.*403_*406del rs782795406
NM_001127898.4(CLCN5):c.*504G>C rs1057515931
NM_001127898.4(CLCN5):c.*5240T>C rs1934296250
NM_001127898.4(CLCN5):c.*5349del rs1057515944
NM_001127898.4(CLCN5):c.*5815T>C rs1057515945
NM_001127898.4(CLCN5):c.*5899_*5900del rs1057515946
NM_001127898.4(CLCN5):c.*5970C>T rs1934320534
NM_001127898.4(CLCN5):c.*6275GTA[3] rs782085954
NM_001127898.4(CLCN5):c.*6694C>T rs1569540841
NM_001127898.4(CLCN5):c.*6841T>C rs1934346410
NM_001127898.4(CLCN5):c.*969A>C rs1057515932
NM_001127898.4(CLCN5):c.*969A>G rs1057515932
NM_001127898.4(CLCN5):c.819= (p.Ser273=) rs34464675

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.