ClinVar Miner

List of variants in gene SLC4A11 studied for corneal dystrophy-perceptive deafness syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 141
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001174089.2(SLC4A11):c.1415+97T>G rs3810561 0.72417
NM_001174089.2(SLC4A11):c.44-400C>G rs3810562 0.65483
NM_001400277.1(SLC4A11):c.-15+100T>C rs6107260 0.65355
NM_001174089.2(SLC4A11):c.1489+141T>C rs6139039 0.62765
NM_001174089.2(SLC4A11):c.729+140C>A rs2144771 0.50909
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=) rs3827075 0.49054
NM_001174089.2(SLC4A11):c.44-121G>C rs3827076 0.44987
NM_001174089.2(SLC4A11):c.1043-15A>C rs3803953 0.43502
NM_001174089.2(SLC4A11):c.2193-18C>T rs2281575 0.39893
NM_001174089.2(SLC4A11):c.88+189G>A rs4142381 0.37902
NM_001174089.2(SLC4A11):c.89-8G>T rs3803957 0.27831
NM_001174089.2(SLC4A11):c.730-31T>C rs540847946 0.22407
NM_001174089.2(SLC4A11):c.730-29_730-28insC rs147477986 0.22402
NM_001174089.2(SLC4A11):c.292-86G>C rs6139040 0.20545
NM_001174089.2(SLC4A11):c.88+201A>C rs6037508 0.19777
NM_001174089.2(SLC4A11):c.730-29T>A rs573322136 0.19676
NM_001174089.2(SLC4A11):c.729+34G>A rs3803955 0.17603
NM_001174089.2(SLC4A11):c.591G>A (p.Ser197=) rs3803956 0.17522
NM_001174089.2(SLC4A11):c.2389-9C>T rs41281858 0.17452
NM_001174089.2(SLC4A11):c.2018+7A>G rs753806855 0.11179
NM_001174089.2(SLC4A11):c.1283-11C>T rs41281862 0.09711
NM_001174089.2(SLC4A11):c.1611C>T (p.Asn537=) rs41281860 0.09317
NM_001174089.2(SLC4A11):c.1341G>A (p.Thr447=) rs6084312 0.08722
NM_001174089.2(SLC4A11):c.2193-4G>A rs10048856 0.06274
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=) rs58757394 0.05831
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=) rs34460295 0.02737
NM_001174089.2(SLC4A11):c.401A>G (p.Asn134Ser) rs34520315 0.01248
NM_001174089.2(SLC4A11):c.2391T>G (p.Thr797=) rs7262506 0.00889
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile) rs34224785 0.00886
NM_001174089.2(SLC4A11):c.2610C>T (p.Asp870=) rs76962118 0.00795
NM_001174089.2(SLC4A11):c.2061C>T (p.Leu687=) rs140461431 0.00580
NM_001174089.2(SLC4A11):c.2292C>T (p.Pro764=) rs139086376 0.00546
NM_001174089.2(SLC4A11):c.426C>T (p.Arg142=) rs35262978 0.00466
NM_001174089.2(SLC4A11):c.1167C>T (p.Ile389=) rs78274653 0.00393
NM_001174089.2(SLC4A11):c.1722C>G (p.Thr574=) rs144123179 0.00316
NM_001174089.2(SLC4A11):c.1043-10C>T rs201799793 0.00219
NM_001174089.2(SLC4A11):c.992G>A (p.Arg331Gln) rs112163941 0.00170
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp) rs138137682 0.00140
NM_001174089.2(SLC4A11):c.1131C>T (p.Phe377=) rs139297339 0.00099
NM_001174089.2(SLC4A11):c.44-8C>G rs146575952 0.00099
NM_001174089.2(SLC4A11):c.2193G>C (p.Thr731=) rs149912717 0.00096
NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=) rs147324566 0.00073
NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=) rs62208067 0.00065
NM_001174089.2(SLC4A11):c.1572C>T (p.Leu524=) rs201595005 0.00063
NM_001174089.2(SLC4A11):c.903G>A (p.Thr301=) rs193080010 0.00048
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr) rs138262189 0.00042
NM_001174089.2(SLC4A11):c.1785C>T (p.Cys595=) rs201613216 0.00039
NM_001174089.2(SLC4A11):c.765G>A (p.Thr255=) rs78860240 0.00039
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val) rs141705330 0.00038
NM_001174089.2(SLC4A11):c.78C>T (p.Phe26=) rs35732230 0.00035
NM_001174089.2(SLC4A11):c.2238C>T (p.Ser746=) rs377076488 0.00031
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg) rs143965185 0.00029
NM_001174089.2(SLC4A11):c.735C>T (p.Ser245=) rs150937996 0.00025
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=) rs200879869 0.00024
NM_001174089.2(SLC4A11):c.1635G>A (p.Thr545=) rs201133609 0.00023
NM_001174089.2(SLC4A11):c.1368G>A (p.Ala456=) rs368001060 0.00021
NM_001174089.2(SLC4A11):c.2136C>T (p.His712=) rs368894887 0.00021
NM_001174089.2(SLC4A11):c.44-73C>T rs200343026 0.00021
NM_001174089.2(SLC4A11):c.495C>T (p.Thr165=) rs148099705 0.00021
NM_001174089.2(SLC4A11):c.501C>T (p.Ala167=) rs749352950 0.00021
NM_001174089.2(SLC4A11):c.1575C>T (p.Gly525=) rs367716152 0.00014
NM_001174089.2(SLC4A11):c.897G>A (p.Pro299=) rs200760447 0.00014
NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=) rs141079217 0.00013
NM_001174089.2(SLC4A11):c.523+9G>A rs200962876 0.00013
NM_001174089.2(SLC4A11):c.1020G>A (p.Leu340=) rs190463957 0.00012
NM_001174089.2(SLC4A11):c.1419G>A (p.Ser473=) rs149866580 0.00012
NM_001174089.2(SLC4A11):c.2340C>T (p.Leu780=) rs199634796 0.00012
NM_001174089.2(SLC4A11):c.2388+7G>A rs117959552 0.00011
NM_001174089.2(SLC4A11):c.1992C>T (p.Ala664=) rs146674129 0.00010
NM_001174089.2(SLC4A11):c.789C>T (p.Ile263=) rs367721824 0.00010
NM_001174089.2(SLC4A11):c.117C>T (p.Thr39=) rs774713662 0.00008
NM_001174089.2(SLC4A11):c.1959C>A (p.Ser653=) rs140234175 0.00007
NM_001174089.2(SLC4A11):c.120C>T (p.Phe40=) rs577502313 0.00006
NM_001174089.2(SLC4A11):c.1890G>A (p.Ala630=) rs376848818 0.00006
NM_001174089.2(SLC4A11):c.242-6C>T rs761855363 0.00006
NM_001174089.2(SLC4A11):c.729+10T>C rs372201212 0.00006
NM_001174089.2(SLC4A11):c.1671C>T (p.Thr557=) rs370182539 0.00005
NM_001174089.2(SLC4A11):c.2192+1G>A rs759540763 0.00005
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394 0.00005
NM_001174089.2(SLC4A11):c.1926C>T (p.Val642=) rs755545377 0.00004
NM_001174089.2(SLC4A11):c.2277G>A (p.Pro759=) rs373053580 0.00004
NM_001174089.2(SLC4A11):c.242-5G>A rs775424811 0.00004
NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr) rs370322948 0.00003
NM_001174089.2(SLC4A11):c.1158C>T (p.Asp386=) rs764910925 0.00003
NM_001174089.2(SLC4A11):c.1282+1G>A rs776659347 0.00003
NM_001174089.2(SLC4A11):c.1503C>T (p.Tyr501=) rs762726449 0.00003
NM_001174089.2(SLC4A11):c.1707C>G (p.Leu569=) rs754759954 0.00003
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His) rs751797233 0.00003
NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr) rs748362724 0.00003
NM_001174089.2(SLC4A11):c.390C>T (p.Thr130=) rs149548266 0.00003
NM_001174089.2(SLC4A11):c.1524C>T (p.Asp508=) rs747443468 0.00002
NM_001174089.2(SLC4A11):c.2175C>T (p.Asn725=) rs372681319 0.00002
NM_001174089.2(SLC4A11):c.2253G>C (p.Leu751=) rs766549806 0.00002
NM_001174089.2(SLC4A11):c.2389-8G>A rs762782747 0.00002
NM_001174089.2(SLC4A11):c.330G>A (p.Ala110=) rs200345104 0.00002
NM_001174089.2(SLC4A11):c.570_571del (p.Val192fs) rs762596098 0.00002
NM_001174089.2(SLC4A11):c.1002C>T (p.Ile334=) rs200404341 0.00001
NM_001174089.2(SLC4A11):c.1188C>T (p.Ala396=) rs780280857 0.00001
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg) rs1233324021 0.00001
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg) rs1233324021 0.00001
NM_001174089.2(SLC4A11):c.1323C>T (p.Asn441=) rs575773766 0.00001
NM_001174089.2(SLC4A11):c.1489+8C>T rs760670114 0.00001
NM_001174089.2(SLC4A11):c.1578C>T (p.Ala526=) rs1247924686 0.00001
NM_001174089.2(SLC4A11):c.1623C>T (p.Leu541=) rs749478923 0.00001
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter) rs121909390 0.00001
NM_001174089.2(SLC4A11):c.1911G>A (p.Leu637=) rs771516809 0.00001
NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=) rs201982813 0.00001
NM_001174089.2(SLC4A11):c.2215C>T (p.Arg739Trp) rs757553189 0.00001
NM_001174089.2(SLC4A11):c.2518A>G (p.Met840Val) rs121909396 0.00001
NM_001174089.2(SLC4A11):c.2559-5C>T rs561993804 0.00001
NM_001174089.2(SLC4A11):c.384G>A (p.Thr128=) rs761675091 0.00001
NM_001174089.2(SLC4A11):c.44-35C>T rs777764569 0.00001
NM_001174089.2(SLC4A11):c.575del (p.Val192fs) rs2067871973 0.00001
NM_001174089.2(SLC4A11):c.633G>A (p.Arg211=) rs756221460 0.00001
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys) rs762942751 0.00001
NM_001174089.2(SLC4A11):c.758C>T (p.Ala253Val) rs1298347142 0.00001
NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter) rs1363770105
NM_001174089.2(SLC4A11):c.1168+10T>G rs1439498080
NM_001174089.2(SLC4A11):c.1330_1333delinsA (p.Tyr444_Ala445delinsThr) rs869320722
NM_001174089.2(SLC4A11):c.1415G>A (p.Arg472Lys) rs121909393
NM_001174089.2(SLC4A11):c.1416-1G>C rs2067710234
NM_001174089.2(SLC4A11):c.1490-2A>G rs1430176022
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met) rs755379986
NM_001174089.2(SLC4A11):c.1658C>A (p.Ser553Ter) rs1311747266
NM_001174089.2(SLC4A11):c.1782C>T (p.Asp594=) rs2067673861
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter) rs772409032
NM_001174089.2(SLC4A11):c.2184C>T (p.Ile728=) rs1600561128
NM_001174089.2(SLC4A11):c.2185_2192dup (p.Ile732fs) rs764217666
NM_001174089.2(SLC4A11):c.2232C>T (p.Gly744=) rs758751670
NM_001174089.2(SLC4A11):c.2331C>A (p.Leu777=) rs1568527712
NM_001174089.2(SLC4A11):c.286C>T (p.Arg96Ter) rs780346984
NM_001174089.2(SLC4A11):c.291+126G>A rs6133022
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys) rs1482631297
NM_001174089.2(SLC4A11):c.425_432del (p.Arg142fs) rs869320721
NM_001174089.2(SLC4A11):c.44-91A>G
NM_001174089.2(SLC4A11):c.589T>C (p.Ser197Pro) rs121909395
NM_001174089.2(SLC4A11):c.590C>T (p.Ser197Leu)
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe) rs2122588507
NM_001174089.2(SLC4A11):c.882C>T (p.His294=) rs973038358
NM_001174089.2(SLC4A11):c.93C>G (p.Tyr31Ter)
NM_032034.4:c.2423_2454del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.