ClinVar Miner

List of variants in gene CLCN4 reported as uncertain significance for Inborn genetic diseases

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001830.4(CLCN4):c.1937T>C (p.Ile646Thr) rs747118105 0.00009
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_001830.4(CLCN4):c.1989G>C (p.Gln663His) rs1402967241 0.00002
NM_001830.4(CLCN4):c.245-6T>C rs748363549 0.00002
NM_001830.4(CLCN4):c.1829C>T (p.Ser610Leu) rs1358498600 0.00001
NM_001830.4(CLCN4):c.1042C>G (p.Leu348Val)
NM_001830.4(CLCN4):c.1645A>C (p.Ile549Leu) rs2147183705
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001830.4(CLCN4):c.665G>C (p.Gly222Ala) rs1924390431
NM_001830.4(CLCN4):c.814A>G (p.Ile272Val) rs1175092187

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