ClinVar Miner

List of variants in gene CLCN4 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001830.4(CLCN4):c.288G>A (p.Thr96=) rs2106801 0.00804
NM_001830.4(CLCN4):c.2184G>A (p.Thr728=) rs34200704 0.00526
NM_001830.4(CLCN4):c.1758G>A (p.Val586=) rs143437511 0.00287
NM_001830.4(CLCN4):c.705C>G (p.Gly235=) rs777452988 0.00005
NM_001830.4(CLCN4):c.2043C>T (p.Pro681=) rs770044114 0.00003
NM_001830.4(CLCN4):c.1295G>A (p.Arg432Gln) rs752631287 0.00001
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_001830.4(CLCN4):c.244+4C>T rs192492405

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