ClinVar Miner

List of variants in gene CLCN1 reported as benign for Thomsen and Becker disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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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.1167-141G>T rs2367941 0.88632
NM_000083.3(CLCN1):c.1065-108G>A rs2242493 0.63143
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=) rs2272251 0.44456
NM_000083.3(CLCN1):c.1402-9C>T rs2272252 0.44267
NM_000083.3(CLCN1):c.433+72C>G rs7800971 0.43455
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) rs13438232 0.39778
NM_000083.3(CLCN1):c.2284+33C>G rs56680997 0.39032
NM_000083.3(CLCN1):c.261C>T (p.Thr87=) rs6962852 0.37404
NM_000083.3(CLCN1):c.301+27T>A rs6948526 0.15429
NM_000083.3(CLCN1):c.1401+17T>C rs7794560 0.14458
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.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.316C>G (p.Leu106Val) rs145517198 0.00313
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732 0.00155
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.804G>A (p.Thr268=) rs141521078 0.00021
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000083.3(CLCN1):c.2544C>T (p.Leu848=) rs140111476 0.00008
NM_000083.3(CLCN1):c.2875A>G (p.Ser959Gly) rs779694767 0.00007
NM_000083.3(CLCN1):c.853+17del
NM_000083.3(CLCN1):c.853+17dup
NM_000083.3(CLCN1):c.853+23dup

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