ClinVar Miner

List of variants studied for Dent disease type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
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.*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.*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.*6240G>C rs782177733 0.00073
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.2305G>A (p.Val769Ile) rs201962580 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.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.1816G>A (p.Val606Met) rs782060809 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.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.1872G>A (p.Arg624=) rs781948493 0.00001
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.*504G>C rs1057515931
NM_001127898.4(CLCN5):c.*5240T>C rs1934296250
NM_001127898.4(CLCN5):c.*5815T>C rs1057515945
NM_001127898.4(CLCN5):c.*5970C>T rs1934320534
NM_001127898.4(CLCN5):c.*6694C>T rs1569540841
NM_001127898.4(CLCN5):c.*6841T>C rs1934346410
NM_001127898.4(CLCN5):c.*969A>G rs1057515932
NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser) rs782267039
NM_001127898.4(CLCN5):c.819= (p.Ser273=) rs34464675

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