ClinVar Miner

List of variants in gene CLCN1 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP
NM_000083.2(CLCN1):c.698delG (p.Gly233Alafs) rs1423567292
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423
NM_000083.3(CLCN1):c.1167-10T>C rs543120965
NM_000083.3(CLCN1):c.1167-3C>T rs1308054644
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg) rs1563080014
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
NM_000083.3(CLCN1):c.1401+1G>T rs769861892
NM_000083.3(CLCN1):c.1402-9C>T rs2272252
NM_000083.3(CLCN1):c.1405T>C (p.Trp469Arg) rs759207718
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=)
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.1480T>C (p.Phe494Leu) rs147493705
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704
NM_000083.3(CLCN1):c.1605C>T (p.Ala535=) rs200676193
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454
NM_000083.3(CLCN1):c.1612_1613CA[2] (p.Thr539fs) rs1554438432
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met) rs1554438433
NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp) rs1563084603
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile)
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358
NM_000083.3(CLCN1):c.180+3A>T rs202217420
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys)
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
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.2024A>C (p.Gln675Pro) rs768582911
NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg) rs770836890
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641
NM_000083.3(CLCN1):c.2284+5C>T rs74824159
NM_000083.3(CLCN1):c.2364+2T>A rs886041384
NM_000083.3(CLCN1):c.2403+4A>C rs372826693
NM_000083.3(CLCN1):c.2461_2463delinsCTC (p.Ile821Leu) rs1554439830
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His) rs143146088
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del) rs1563090152
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn) rs1204927357
NM_000083.3(CLCN1):c.352= (p.Gly118=) rs10282312
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe)
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro) rs1554434814
NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala) rs1554434857
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp) rs1490537212
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) rs1554435334
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) rs1554436419
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) rs1563078716
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.921_932del (p.Ala308_Phe311del) rs766116662
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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