ClinVar Miner

List of variants in gene SLC4A11 studied for Corneal dystrophy

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Total variants: 95
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HGVS dbSNP gnomAD frequency
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.89-8G>T rs3803957 0.27831
NM_001174089.2(SLC4A11):c.2389-9C>T rs41281858 0.17452
NM_001174089.2(SLC4A11):c.591G>A (p.Ser197=) rs3803956 0.17372
NM_001174089.2(SLC4A11):c.1283-11C>T rs41281862 0.09711
NM_001174089.2(SLC4A11):c.1611C>T (p.Asn537=) rs41281860 0.09036
NM_001174089.2(SLC4A11):c.1341G>A (p.Thr447=) rs6084312 0.08460
NM_001174089.2(SLC4A11):c.*34C>T rs6051657 0.06566
NM_001174089.2(SLC4A11):c.2193-4G>A rs10048856 0.06274
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=) rs58757394 0.05710
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=) rs34460295 0.02737
NM_001174089.2(SLC4A11):c.*225C>T rs77978636 0.01052
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.2061C>T (p.Leu687=) rs140461431 0.00545
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.1169-12G>A rs200921422 0.00346
NM_001174089.2(SLC4A11):c.1722C>G (p.Thr574=) rs144123179 0.00309
NM_001174089.2(SLC4A11):c.*109C>T rs143751993 0.00238
NM_001174089.2(SLC4A11):c.1043-10C>T rs201799793 0.00213
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.*323C>T rs148964021 0.00118
NM_001174089.2(SLC4A11):c.1131C>T (p.Phe377=) rs139297339 0.00110
NM_001174089.2(SLC4A11):c.2193G>C (p.Thr731=) rs149912717 0.00096
NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=) rs147324566 0.00070
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.893C>T (p.Ala298Val) rs141705330 0.00052
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.765G>A (p.Thr255=) rs78860240 0.00040
NM_001174089.2(SLC4A11):c.251C>T (p.Ala84Val) rs145115400 0.00031
NM_001174089.2(SLC4A11):c.453G>C (p.Glu151Asp) rs141836046 0.00031
NM_001174089.2(SLC4A11):c.606-15C>T rs377025499 0.00030
NM_001174089.2(SLC4A11):c.1419G>A (p.Ser473=) rs149866580 0.00028
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg) rs143965185 0.00027
NM_001174089.2(SLC4A11):c.1020G>A (p.Leu340=) rs190463957 0.00025
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=) rs200879869 0.00024
NM_001174089.2(SLC4A11):c.*27C>T rs148132505 0.00023
NM_001174089.2(SLC4A11):c.44-73C>T rs200343026 0.00023
NM_001174089.2(SLC4A11):c.1368G>A (p.Ala456=) rs368001060 0.00021
NM_001174089.2(SLC4A11):c.1944C>T (p.Leu648=) rs376622984 0.00017
NM_001174089.2(SLC4A11):c.2193-13C>T rs199569836 0.00017
NM_001174089.2(SLC4A11):c.2388+7G>A rs117959552 0.00017
NM_001174089.2(SLC4A11):c.1700G>A (p.Gly567Asp) rs139078082 0.00016
NM_001174089.2(SLC4A11):c.370G>A (p.Val124Ile) rs148613811 0.00014
NM_001174089.2(SLC4A11):c.523+9G>A rs200962876 0.00014
NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=) rs141079217 0.00013
NM_001174089.2(SLC4A11):c.2340C>T (p.Leu780=) rs199634796 0.00012
NM_001174089.2(SLC4A11):c.789C>T (p.Ile263=) rs367721824 0.00010
NM_001174089.2(SLC4A11):c.1929C>T (p.Ser643=) rs533752647 0.00009
NM_001174089.2(SLC4A11):c.1959C>A (p.Ser653=) rs140234175 0.00007
NM_001174089.2(SLC4A11):c.242-6C>T rs761855363 0.00007
NM_001174089.2(SLC4A11):c.631C>T (p.Arg211Trp) rs772277691 0.00007
NM_001174089.2(SLC4A11):c.883G>A (p.Gly295Ser) rs146274937 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.209A>G (p.Asn70Ser) rs371191159 0.00006
NM_001174089.2(SLC4A11):c.259G>A (p.Gly87Ser) rs781159564 0.00004
NM_001174089.2(SLC4A11):c.449A>G (p.Asn150Ser) rs202002249 0.00004
NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr) rs370322948 0.00003
NM_001174089.2(SLC4A11):c.1159G>A (p.Gly387Arg) rs532348574 0.00003
NM_001174089.2(SLC4A11):c.1258G>A (p.Ala420Thr) rs376120280 0.00003
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His) rs751797233 0.00003
NM_001174089.2(SLC4A11):c.470A>G (p.Asp157Gly) rs748474270 0.00003
NM_001174089.2(SLC4A11):c.1421C>T (p.Thr474Met) rs768052263 0.00002
NM_001174089.2(SLC4A11):c.44-7C>T rs779027436 0.00002
NM_001174089.2(SLC4A11):c.611C>T (p.Thr204Ile) rs1224728455 0.00002
NM_001174089.2(SLC4A11):c.1169-13C>T rs373231267 0.00001
NM_001174089.2(SLC4A11):c.1347G>A (p.Leu449=) rs766711908 0.00001
NM_001174089.2(SLC4A11):c.1489+8C>T rs760670114 0.00001
NM_001174089.2(SLC4A11):c.1857G>A (p.Lys619=) rs1284744149 0.00001
NM_001174089.2(SLC4A11):c.1960A>G (p.Met654Val) rs762735932 0.00001
NM_001174089.2(SLC4A11):c.2011G>A (p.Glu671Lys) rs751718398 0.00001
NM_001174089.2(SLC4A11):c.2355C>T (p.Leu785=) rs755312854 0.00001
NM_001174089.2(SLC4A11):c.2558+12T>A rs770217478 0.00001
NM_001174089.2(SLC4A11):c.89G>T (p.Ser30Ile) rs749897720 0.00001
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met) rs755379986
NM_001174089.2(SLC4A11):c.1742+8G>A rs2067679229
NM_001174089.2(SLC4A11):c.1923C>T (p.Ala641=) rs886056632
NM_001174089.2(SLC4A11):c.2058C>T (p.Leu686=) rs141079217
NM_001174089.2(SLC4A11):c.2216G>T (p.Arg739Leu) rs121909387
NM_001174089.2(SLC4A11):c.2286G>T (p.Trp762Cys) rs2067626997
NM_001174089.2(SLC4A11):c.2365G>A (p.Val789Met) rs145325200
NM_001174089.2(SLC4A11):c.2554A>G (p.Ile852Val) rs886056631
NM_001174089.2(SLC4A11):c.291+3G>A rs2067904587
NM_001174089.2(SLC4A11):c.322A>G (p.Ile108Val) rs773078769
NM_001174089.2(SLC4A11):c.409C>T (p.Arg137Trp) rs773524307
NM_001174089.2(SLC4A11):c.44-24G>C rs747573446
NM_001174089.2(SLC4A11):c.515G>A (p.Arg172Gln) rs149016022
NM_001174089.2(SLC4A11):c.691G>A (p.Val231Ile) rs886056633

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