ClinVar Miner

List of variants in gene CLCN1 reported as likely benign for not provided

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.1930+108T>C rs17381401 0.02190
NM_000083.3(CLCN1):c.2365-126G>A rs73172436 0.01820
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_000083.3(CLCN1):c.853+214G>T rs73726617 0.01382
NM_000083.3(CLCN1):c.775-268A>T rs73726616 0.01296
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384 0.01028
NM_000083.3(CLCN1):c.2596-312T>C rs73172438 0.00946
NM_000083.3(CLCN1):c.1472-66T>C rs142982744 0.00874
NM_000083.3(CLCN1):c.1583-169T>G rs140839699 0.00873
NM_000083.3(CLCN1):c.697-258C>G rs111676448 0.00815
NM_000083.3(CLCN1):c.302-170G>T rs78040569 0.00793
NM_000083.3(CLCN1):c.302-37T>C rs112059687 0.00777
NM_000083.3(CLCN1):c.181-277C>T rs74856857 0.00768
NM_000083.3(CLCN1):c.2596-201C>T rs142195610 0.00735
NC_000007.14:g.143315964G>A rs149077179 0.00710
NM_000083.3(CLCN1):c.2284+42G>A rs79078881 0.00603
NM_000083.3(CLCN1):c.1167-196C>G rs145398452 0.00599
NM_000083.3(CLCN1):c.433+32G>A rs114486957 0.00570
NM_000083.3(CLCN1):c.2172+105A>C rs139913910 0.00479
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_000083.3(CLCN1):c.433+185G>A rs10282576 0.00437
NM_000083.3(CLCN1):c.1931-200T>C rs114008688 0.00412
NM_000083.3(CLCN1):c.1471+65G>A rs77814083 0.00365
NM_000083.3(CLCN1):c.2403+51T>C rs145468503 0.00339
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val) rs145517198 0.00313
NM_000083.3(CLCN1):c.433+78C>T rs146551219 0.00281
NM_000083.3(CLCN1):c.980-135A>G rs73456424 0.00267
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.2364+10G>A rs201855153 0.00098
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) rs139659129 0.00091
NM_000083.3(CLCN1):c.1815T>C (p.Val605=) rs141945240 0.00087
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692 0.00060
NM_000083.3(CLCN1):c.633C>T (p.Ala211=) rs138246784 0.00056
NM_000083.3(CLCN1):c.1582+47G>T rs117080330 0.00046
NM_000083.3(CLCN1):c.1776C>T (p.Asp592=) rs148132102 0.00038
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916 0.00027
NM_000083.3(CLCN1):c.804G>A (p.Thr268=) rs141521078 0.00021
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660 0.00016
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000083.3(CLCN1):c.2596-9G>T rs200308662 0.00010
NM_000083.3(CLCN1):c.434-4G>A rs368048336 0.00008
NM_000083.3(CLCN1):c.120G>C (p.Gly40=) rs200344297 0.00006
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) rs775384507 0.00005
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000083.3(CLCN1):c.1290C>T (p.Asn430=)
NM_000083.3(CLCN1):c.1557C>A (p.Ile519=) rs1347911316
NM_000083.3(CLCN1):c.1818G>A (p.Glu606=) rs1803105117
NM_000083.3(CLCN1):c.2172+62CTGGG[7] rs368460599
NM_000083.3(CLCN1):c.2595+163G>C rs185760236
NM_000083.3(CLCN1):c.2595+58G>C rs114841412
NM_000083.3(CLCN1):c.302-110TC[18] rs59572880
NM_000083.3(CLCN1):c.302-110TC[20] rs59572880
NM_000083.3(CLCN1):c.302-110TC[22] rs59572880
NM_000083.3(CLCN1):c.433+150G>A rs145068952
NM_000083.3(CLCN1):c.505C>T (p.Leu169=) rs1183635234
NM_000083.3(CLCN1):c.774+464C>T
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864

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