ClinVar Miner

List of variants in gene CLCN7 reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.11417
NM_001287.6(CLCN7):c.*1572C>T rs539134149 0.00264
NM_001287.6(CLCN7):c.*1452G>A rs578092313 0.00080
NM_001287.6(CLCN7):c.*89C>T rs372232215 0.00035
NM_001287.6(CLCN7):c.*1685G>A rs376387077 0.00021
NM_001287.6(CLCN7):c.350C>T (p.Thr117Met) rs201003681 0.00014
NM_001287.6(CLCN7):c.286-9G>T rs200321142 0.00013
NM_001287.6(CLCN7):c.*1589G>C rs532736933 0.00001
NM_001287.6(CLCN7):c.*1144dup rs146690487
NM_001287.6(CLCN7):c.*1619GGT[1] rs143409179

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