ClinVar Miner

List of variants in gene CLCN5 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_001127898.4(CLCN5):c.*1160del rs782607038
NM_001127898.4(CLCN5):c.*1292C>T rs781855238
NM_001127898.4(CLCN5):c.*1564_*1567del rs1057515934
NM_001127898.4(CLCN5):c.*1723G>A rs781902814
NM_001127898.4(CLCN5):c.*1874G>A rs1053041096
NM_001127898.4(CLCN5):c.*2270A>G rs1057515936
NM_001127898.4(CLCN5):c.*2317G>A rs969354356
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.*3071A>G rs1057515939
NM_001127898.4(CLCN5):c.*3090C>T rs1057515940
NM_001127898.4(CLCN5):c.*3627C>T rs1057515941
NM_001127898.4(CLCN5):c.*3937C>A rs1057515942
NM_001127898.4(CLCN5):c.*4297A>C rs868964422
NM_001127898.4(CLCN5):c.*477G>A rs1035298488
NM_001127898.4(CLCN5):c.*504G>C rs1057515931
NM_001127898.4(CLCN5):c.*5349del rs1057515944
NM_001127898.4(CLCN5):c.*5815T>C rs1057515945
NM_001127898.4(CLCN5):c.*5895T>A rs1057515947
NM_001127898.4(CLCN5):c.*5899_*5900del rs1057515946
NM_001127898.4(CLCN5):c.*6240G>C rs782177733
NM_001127898.4(CLCN5):c.*6608C>T rs1016988265
NM_001127898.4(CLCN5):c.*6638G>A rs963123113
NM_001127898.4(CLCN5):c.*969A>C rs1057515932
NM_001127898.4(CLCN5):c.1061C>T (p.Ala354Val) rs1060499698
NM_001127898.4(CLCN5):c.1243C>T (p.Arg415Trp) rs782817681
NM_001127898.4(CLCN5):c.1466C>T (p.Pro489Leu) rs782602018
NM_001127898.4(CLCN5):c.164-2118G>T rs957427726
NM_001127898.4(CLCN5):c.164-2249C>T rs781792158
NM_001127898.4(CLCN5):c.164-2276G>A rs905143179
NM_001127898.4(CLCN5):c.1816G>A (p.Val606Met) rs782060809
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile) rs201962580
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001127898.4(CLCN5):c.696G>A (p.Ala232=) rs140312372
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386
NM_001127898.4(CLCN5):c.933+3A>C

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