ClinVar Miner

List of variants in gene CLCN1 reported as pathogenic by Athena Diagnostics Inc

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Gene type:
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Total variants: 31
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HGVS dbSNP
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619
NM_000083.3(CLCN1):c.1471+1G>A rs375596425
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.180+3A>T rs202217420
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) rs201894078
NM_000083.3(CLCN1):c.1930+1G>A
NM_000083.3(CLCN1):c.2023C>T (p.Gln675Ter) rs1563086980
NM_000083.3(CLCN1):c.2364+2T>A rs886041384
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) rs1554436419
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) rs1337473924
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430

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