ClinVar Miner

List of variants in gene CLCN5 reported as benign for Dent disease type 1

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Total variants: 24
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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.*6955C>G rs186369163 0.00273
NM_001127898.4(CLCN5):c.1473C>T (p.Gly491=) rs145670120 0.00136
NM_001127898.4(CLCN5):c.554A>G (p.Lys185Arg) rs55676763 0.00051
NM_001127898.4(CLCN5):c.*5140A>G rs182121138 0.00027
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.1223G>A (p.Arg408His) rs781790886 0.00013
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386 0.00006
NM_001127898.4(CLCN5):c.1243C>T (p.Arg415Trp) rs782817681 0.00005
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.942G>A (p.Ser314=) rs782320623 0.00004
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.1488T>C (p.Ser496=) rs781920581 0.00001
NM_001127898.4(CLCN5):c.819= (p.Ser273=) rs34464675

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