ClinVar Miner

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

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Gene type:
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Total variants: 57
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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 0.63262
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=) rs2272251 0.44574
NM_000083.3(CLCN1):c.1402-28G>A rs2272253 0.44267
NM_000083.3(CLCN1):c.1583-117A>G rs2293365 0.44062
NM_000083.3(CLCN1):c.2285-65G>C rs2242492 0.44045
NM_000083.3(CLCN1):c.1796+76A>G rs940864 0.44040
NM_000083.3(CLCN1):c.1402-9C>T rs2272252 0.43982
NM_000083.3(CLCN1):c.433+72C>G rs7800971 0.43455
NM_000083.3(CLCN1):c.1931-293C>A rs4726609 0.43237
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) rs13438232 0.39795
NM_000083.2(CLCN1):c.-135T>G rs6464541 0.39068
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.1401+180C>A rs2016450 0.29539
NM_000083.3(CLCN1):c.774+146T>C rs2272257 0.22634
NM_000083.3(CLCN1):c.774+170G>A rs2272256 0.22335
NM_000083.3(CLCN1):c.1930+182G>A rs62471044 0.19694
NM_000083.3(CLCN1):c.301+27T>A rs6948526 0.14969
NM_000083.3(CLCN1):c.1401+17T>C rs7794560 0.14458
NM_000083.3(CLCN1):c.2365-102C>T rs2242490 0.12853
NM_000083.3(CLCN1):c.2365-114A>G rs2242491 0.12846
NM_000083.3(CLCN1):c.2172+128A>G rs45554138 0.12796
NM_000083.3(CLCN1):c.2365-65T>C rs2242489 0.10032
NM_000083.3(CLCN1):c.1582+66T>C rs34219073 0.07792
NM_000083.3(CLCN1):c.563-23A>T rs41276048 0.05101
NM_000083.3(CLCN1):c.2404-90C>T rs41277416 0.04997
NM_000083.3(CLCN1):c.-21C>T rs34904831 0.04948
NM_000083.3(CLCN1):c.2364+67G>A rs77994621 0.03187
NM_000083.3(CLCN1):c.1166+204T>C rs55910546 0.03092
NM_000083.3(CLCN1):c.2172+172A>G rs75189021 0.02200
NM_000083.3(CLCN1):c.2595+216C>T rs189876438 0.02027
NM_000083.3(CLCN1):c.302-61A>T rs115234160 0.02000
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922 0.01719
NM_000083.3(CLCN1):c.-16C>G rs191902231 0.01167
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384 0.00975
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054 0.00925
NM_000083.3(CLCN1):c.1797-9C>T rs41276057 0.00913
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00885
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00855
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00465
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) rs147317366 0.00424
NM_000083.3(CLCN1):c.-15T>G rs182668076 0.00292
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692 0.00080
NM_000083.3(CLCN1):c.-14C>A rs2280663
NM_000083.3(CLCN1):c.-16_-14delinsGGA rs1563071790
NM_000083.3(CLCN1):c.1472-56T>A rs6464542
NM_000083.3(CLCN1):c.1583-62A>C rs117799198
NM_000083.3(CLCN1):c.2595+139_2595+140del rs35882576
NM_000083.3(CLCN1):c.2595+140del rs35882576
NM_000083.3(CLCN1):c.2595+140dup rs35882576
NM_000083.3(CLCN1):c.302-110TC[14] rs59572880
NM_000083.3(CLCN1):c.302-110TC[15] rs59572880
NM_000083.3(CLCN1):c.302-110TC[17] rs59572880

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