ClinVar Miner

List of variants in gene CLCN1 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.1402-9C>T rs2272252 0.44267
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922 0.01785
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_000083.3(CLCN1):c.352= (p.Gly118=) rs10282312 0.01651
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00935
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054 0.00927
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00916
NM_000083.3(CLCN1):c.1797-9C>T rs41276057 0.00913
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029 0.00231
NM_000083.3(CLCN1):c.2509-3C>T rs375341574 0.00208
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115 0.00187
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732 0.00155
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705 0.00132
NM_000083.3(CLCN1):c.2364+10G>A rs201855153 0.00098
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) rs139659129 0.00091
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692 0.00060
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641 0.00054
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334 0.00030
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916 0.00027
NM_000083.3(CLCN1):c.900G>A (p.Arg300=) rs149578972 0.00022
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213 0.00009
NM_000083.3(CLCN1):c.1605C>T (p.Ala535=) rs200676193 0.00009
NM_000083.3(CLCN1):c.2403+4A>C rs372826693 0.00009
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) rs775384507 0.00005
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522 0.00004
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392 0.00004
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) rs745329674 0.00004
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly) rs1441046956 0.00003
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys) rs146469288 0.00003
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) rs780534566 0.00003
NM_000083.3(CLCN1):c.2596-1G>A rs771721648 0.00003
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met) rs200371691 0.00002
NM_000083.3(CLCN1):c.774+1G>A rs776073429 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430 0.00002
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser) rs1682810737 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423 0.00001
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.1401+1G>T rs769861892 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile) rs202120426 0.00001
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) rs201894078 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000083.3(CLCN1):c.2284+3G>A rs755127390 0.00001
NM_000083.3(CLCN1):c.2364+2T>A rs886041384 0.00001
NM_000083.3(CLCN1):c.2365-3T>C rs770158484 0.00001
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln) rs771890096 0.00001
NM_000083.3(CLCN1):c.2789C>A (p.Pro930His) rs147068247 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro) rs1554434814 0.00001
NM_000083.3(CLCN1):c.563-8G>A rs763640926 0.00001
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile) rs759703560 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) rs1478129213 0.00001
NM_000083.2(CLCN1):c.698delG rs1423567292
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala) rs2116852900
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly)
NM_000083.3(CLCN1):c.1166+5G>A rs1586497958
NM_000083.3(CLCN1):c.1167-3C>T rs1308054644
NM_000083.3(CLCN1):c.1183_1187del (p.Gly395fs)
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) rs780834658
NM_000083.3(CLCN1):c.1264G>T (p.Glu422Ter)
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg) rs1563080014
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) rs1027814542
NM_000083.3(CLCN1):c.1405T>C (p.Trp469Arg) rs759207718
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=) rs372034290
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu) rs1312002847
NM_000083.3(CLCN1):c.1454T>G (p.Met485Arg) rs1586507590
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val) rs1460714146
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476
NM_000083.3(CLCN1):c.1616_1617del (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.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) rs1803112361
NM_000083.3(CLCN1):c.2404-9G>A
NM_000083.3(CLCN1):c.2416GAGCAG[3] (p.Gln809_Leu810insGluGln)
NM_000083.3(CLCN1):c.2461_2463delinsCTC (p.Ile821Leu) rs1554439830
NM_000083.3(CLCN1):c.2461_2464delinsCTCC (p.Ile821_Asp822delinsLeuHis) rs2116396889
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His) rs143146088
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr) rs1803362038
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del) rs1563090152
NM_000083.3(CLCN1):c.2694G>T (p.Gly898=) rs1803411706
NM_000083.3(CLCN1):c.2782G>A (p.Glu928Lys) rs1803416147
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val) rs1586483178
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
NM_000083.3(CLCN1):c.2959A>C (p.Ile987Leu)
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn) rs1204927357
NM_000083.3(CLCN1):c.392T>A (p.Val131Asp) rs769391461
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) rs1586484463
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe) rs992335710
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.586A>T (p.Thr196Ser) rs1802442547
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.661G>A (p.Ala221Thr)
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn) rs1802446540
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu) rs1554435319
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864
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.818T>C (p.Val273Ala) rs1586489367
NM_000083.3(CLCN1):c.824T>C (p.Val275Ala)
NM_000083.3(CLCN1):c.825C>T (p.Val275=)
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.905A>G (p.Tyr302Cys) rs1563078716
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) rs1337473924
NM_000083.3(CLCN1):c.987C>G (p.Ile329Met) rs140664749

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