ClinVar Miner

List of variants in gene CLCN5 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000084.4(CLCN5):c.-230G>A rs781805006
NM_001127898.4(CLCN5):c.*1470C>T rs186889927
NM_001127898.4(CLCN5):c.*3495A>G rs183523710
NM_001127898.4(CLCN5):c.*349G>A rs111438914
NM_001127898.4(CLCN5):c.*4034A>T rs782274908
NM_001127898.4(CLCN5):c.*5140A>G rs182121138
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.1422G>A (p.Glu474=) rs199594074
NM_001127898.4(CLCN5):c.1473C>T (p.Gly491=) rs145670120
NM_001127898.4(CLCN5):c.164-2333T>G rs41310663
NM_001127898.4(CLCN5):c.636G>A (p.Met212Ile) rs34800648
NM_001127899.4(CLCN5):c.*1447T>G rs543285083
NM_001127899.4(CLCN5):c.*1735T>C rs782712129
NM_001127899.4(CLCN5):c.*2324G>A rs782677531
NM_001127899.4(CLCN5):c.*2980A>G rs56147923
NM_001127899.4(CLCN5):c.*403_*406del rs782795406
NM_001127899.4(CLCN5):c.*4692C>T rs143625654
NM_001127899.4(CLCN5):c.*559A>G rs375542213
NM_001127899.4(CLCN5):c.*6275_*6277GTA[3] rs782085954
NM_001127899.4(CLCN5):c.1244G>A (p.Arg415Gln) rs190451218
NM_001127899.4(CLCN5):c.1251A>G (p.Arg417=) rs782591993

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