ClinVar Miner

List of variants in gene CLCN5 studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP
CLCN5, ALU INS, EX11
NG_007159.3:g.(?_162979)_(164232_?)del
NM_001127898.4(CLCN5):c.*1292C>T rs781855238
NM_001127898.4(CLCN5):c.*1470C>T rs186889927
NM_001127898.4(CLCN5):c.*1723G>A rs781902814
NM_001127898.4(CLCN5):c.*2860T>C rs140913229
NM_001127898.4(CLCN5):c.*3255C>T rs112868450
NM_001127898.4(CLCN5):c.*3409A>G rs59126550
NM_001127898.4(CLCN5):c.*3495A>G rs183523710
NM_001127898.4(CLCN5):c.*349G>A rs111438914
NM_001127898.4(CLCN5):c.*3652T>C rs56657044
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.*5140A>G rs182121138
NM_001127898.4(CLCN5):c.*5144C>T rs111560086
NM_001127898.4(CLCN5):c.*5956T>C rs932286
NM_001127898.4(CLCN5):c.*6143C>T rs141665472
NM_001127898.4(CLCN5):c.*6217G>A rs781967731
NM_001127898.4(CLCN5):c.*6372T>C rs573740499
NM_001127898.4(CLCN5):c.*6538G>A rs781863818
NM_001127898.4(CLCN5):c.*869A>G rs139746970
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.1203G>C (p.Leu401=) rs34122840
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.1422G>A (p.Glu474=) rs199594074
NM_001127898.4(CLCN5):c.1466C>T (p.Pro489Leu)
NM_001127898.4(CLCN5):c.1473C>T (p.Gly491=) rs145670120
NM_001127898.4(CLCN5):c.1557+1G>T rs1569540382
NM_001127898.4(CLCN5):c.1558-14G>C rs7063765
NM_001127898.4(CLCN5):c.164-2118G>T rs957427726
NM_001127898.4(CLCN5):c.164-2249C>T rs781792158
NM_001127898.4(CLCN5):c.164-2301G>A rs781805006
NM_001127898.4(CLCN5):c.164-2333T>G rs41310663
NM_001127898.4(CLCN5):c.1768T>C (p.Ser590Pro) rs151340623
NM_001127898.4(CLCN5):c.1816G>A (p.Val606Met) rs782060809
NM_001127898.4(CLCN5):c.1914C>T (p.Pro638=) rs34173954
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.416-6A>T rs6651602
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.941C>T (p.Ser314Leu) rs151340626
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val) rs151340630
NM_001127899.4(CLCN5):c.*1160del rs782607038
NM_001127899.4(CLCN5):c.*1447T>G rs543285083
NM_001127899.4(CLCN5):c.*1564_*1567del rs1057515934
NM_001127899.4(CLCN5):c.*1735T>C rs782712129
NM_001127899.4(CLCN5):c.*1874G>A rs1053041096
NM_001127899.4(CLCN5):c.*2270A>G rs1057515936
NM_001127899.4(CLCN5):c.*2317G>A rs969354356
NM_001127899.4(CLCN5):c.*2324G>A rs782677531
NM_001127899.4(CLCN5):c.*2460G>A rs111452206
NM_001127899.4(CLCN5):c.*2479G>A rs782387568
NM_001127899.4(CLCN5):c.*2557A>G rs1057515938
NM_001127899.4(CLCN5):c.*2980A>G rs56147923
NM_001127899.4(CLCN5):c.*3071A>G rs1057515939
NM_001127899.4(CLCN5):c.*3090C>T rs1057515940
NM_001127899.4(CLCN5):c.*3627C>T rs1057515941
NM_001127899.4(CLCN5):c.*3937C>A rs1057515942
NM_001127899.4(CLCN5):c.*403_*406del rs782795406
NM_001127899.4(CLCN5):c.*4692C>T rs143625654
NM_001127899.4(CLCN5):c.*477G>A rs1035298488
NM_001127899.4(CLCN5):c.*504G>C rs1057515931
NM_001127899.4(CLCN5):c.*5349del rs1057515944
NM_001127899.4(CLCN5):c.*559A>G rs375542213
NM_001127899.4(CLCN5):c.*5815T>C rs1057515945
NM_001127899.4(CLCN5):c.*5895T>A rs1057515947
NM_001127899.4(CLCN5):c.*5899_*5900del rs1057515946
NM_001127899.4(CLCN5):c.*6240G>C rs782177733
NM_001127899.4(CLCN5):c.*6275_*6277GTA[3] rs782085954
NM_001127899.4(CLCN5):c.*6608C>T rs1016988265
NM_001127899.4(CLCN5):c.*6638G>A rs963123113
NM_001127899.4(CLCN5):c.*969A>C rs1057515932
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.1061C>T (p.Ala354Val) rs1060499698
NM_001127899.4(CLCN5):c.1230C>A (p.Asn410Lys) rs273585646
NM_001127899.4(CLCN5):c.1243C>T (p.Arg415Trp) rs782817681
NM_001127899.4(CLCN5):c.1244G>A (p.Arg415Gln) rs190451218
NM_001127899.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127899.4(CLCN5):c.1251A>G (p.Arg417=) rs782591993
NM_001127899.4(CLCN5):c.1609C>T (p.Arg537Ter) rs797044811
NM_001127899.4(CLCN5):c.164-2276G>A rs905143179
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.1756C>T (p.Arg586Trp) rs797044812
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.2305G>A (p.Val769Ile) rs201962580
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
NM_001127899.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386
Single allele

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