ClinVar Miner

List of variants in gene CLCN4 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001830.4(CLCN4):c.2031G>A (p.Thr677=) rs149158671 0.00092
NM_001830.4(CLCN4):c.1575C>T (p.Leu525=) rs112652769 0.00063
NM_001830.4(CLCN4):c.747G>A (p.Glu249=) rs143534990 0.00037
NM_001830.4(CLCN4):c.1863C>T (p.Asp621=) rs36049237 0.00025
NM_001830.4(CLCN4):c.264C>T (p.Ile88=) rs749839151 0.00019
NM_001830.4(CLCN4):c.145-4C>A rs202245864 0.00014
NM_001830.4(CLCN4):c.1629C>T (p.Thr543=) rs765796078 0.00009
NM_001830.4(CLCN4):c.822C>T (p.Gly274=) rs748967139 0.00004
NM_001830.4(CLCN4):c.844-8C>G rs753237957 0.00004
NM_001830.4(CLCN4):c.1905C>T (p.Pro635=) rs749273690 0.00003
NM_001830.4(CLCN4):c.573C>T (p.Ser191=) rs759278206 0.00002
NM_001830.4(CLCN4):c.930C>A (p.Pro310=) rs1421307675 0.00002
NM_001830.4(CLCN4):c.1480C>A (p.His494Asn) rs754361706 0.00001
NM_001830.4(CLCN4):c.547A>T (p.Ile183Leu) rs769632007 0.00001
NM_001830.4(CLCN4):c.1039A>G (p.Thr347Ala)
NM_001830.4(CLCN4):c.1389+5G>A rs879255590
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) rs587777161
NM_001830.4(CLCN4):c.1678A>G (p.Lys560Glu) rs1555977174
NM_001830.4(CLCN4):c.1695A>G (p.Ala565=) rs776788910
NM_001830.4(CLCN4):c.2100C>A (p.Ser700Arg) rs1569233509
NM_001830.4(CLCN4):c.299A>C (p.Glu100Ala)
NM_001830.4(CLCN4):c.433-7T>G
NM_001830.4(CLCN4):c.59C>A (p.Pro20Gln) rs762313297
NM_001830.4(CLCN4):c.629C>T (p.Thr210Met) rs2147178483
NM_001830.4(CLCN4):c.741G>A (p.Lys247=)
NM_001830.4(CLCN4):c.757C>T (p.Arg253Trp)
NM_001830.4(CLCN4):c.758G>A (p.Arg253Gln)
NM_001830.4(CLCN4):c.779C>T (p.Ala260Val) rs2147178608

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