ClinVar Miner

List of variants in gene CLCN1 studied for not specified

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp) rs10282312 0.98349
NM_000083.3(CLCN1):c.1402-9C>T rs2272252 0.44267
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) rs13438232 0.39778
NM_000083.3(CLCN1):c.261C>T (p.Thr87=) rs6962852 0.37404
NM_000083.3(CLCN1):c.1401+17T>C rs7794560 0.14458
NM_000083.3(CLCN1):c.-21C>T rs34904831 0.04948
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.-16C>G rs191902231 0.01167
NM_000083.3(CLCN1):c.-15T>G rs182668076 0.01165
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384 0.01028
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.1065-16T>C rs113764654 0.00833
NM_000083.3(CLCN1):c.302-4C>T rs113839156 0.00780
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) rs147317366 0.00424
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029 0.00231
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732 0.00155
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00070
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.1583-12G>A rs374736253 0.00019
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619 0.00011
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.434-14A>G rs200263856 0.00009
NM_000083.3(CLCN1):c.2937C>T (p.Asp979=) rs776873546 0.00005
NM_000083.3(CLCN1):c.1593G>A (p.Ala531=) rs367696668 0.00004
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp) rs1322496244 0.00003
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr) rs139881658 0.00003
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000083.3(CLCN1):c.2509-16T>G rs774042985 0.00002
NM_000083.3(CLCN1):c.655C>T (p.Leu219=) rs1427322271 0.00002
NM_000083.3(CLCN1):c.720C>T (p.Ser240=) rs764402957 0.00002
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) rs763850295 0.00001
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=) rs369099862 0.00001
NM_000083.3(CLCN1):c.2284+19G>A rs769666294 0.00001
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro) rs1554434814 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.-14C>A rs2280663
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1106A>C (p.His369Pro)
NM_000083.3(CLCN1):c.1167-3C>T rs1308054644
NM_000083.3(CLCN1):c.1190T>C (p.Val397Ala) rs368958317
NM_000083.3(CLCN1):c.1363A>T (p.Asn455Tyr)
NM_000083.3(CLCN1):c.1405T>C (p.Trp469Arg) rs759207718
NM_000083.3(CLCN1):c.1482T>C (p.Phe494=) rs745690349
NM_000083.3(CLCN1):c.153C>T (p.Gly51=) rs1554433799
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
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.2508+5G>A rs1401007697
NM_000083.3(CLCN1):c.2533G>A (p.Gly845Ser)
NM_000083.3(CLCN1):c.2883G>C (p.Gly961=) rs1057522756
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn) rs1204927357
NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe) rs121912810
NM_000083.3(CLCN1):c.685G>A (p.Val229Met) rs761601545
NM_000083.3(CLCN1):c.696+6C>T
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp) rs1490537212
NM_000083.3(CLCN1):c.853+19C>A rs748877906
NM_000083.3(CLCN1):c.854-8C>T rs201115855
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662

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