ClinVar Miner

List of variants studied for corneal dystrophy-perceptive deafness syndrome

Included ClinVar conditions (1):
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Total variants: 62
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HGVS dbSNP
NM_001174089.2(SLC4A11):c.1020G>A (p.Leu340=) rs190463957
NM_001174089.2(SLC4A11):c.1043-10C>T rs201799793
NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr) rs370322948
NM_001174089.2(SLC4A11):c.1131C>T (p.Phe377=) rs139297339
NM_001174089.2(SLC4A11):c.1158C>T (p.Asp386=) rs764910925
NM_001174089.2(SLC4A11):c.1167C>T (p.Ile389=) rs78274653
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.1419G>A (p.Ser473=) rs149866580
NM_001174089.2(SLC4A11):c.1489+8C>T rs760670114
NM_001174089.2(SLC4A11):c.1572C>T (p.Leu524=) rs201595005
NM_001174089.2(SLC4A11):c.1635G>A (p.Thr545=) rs201133609
NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=) rs147324566
NM_001174089.2(SLC4A11):c.1722C>G (p.Thr574=) rs144123179
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter) rs121909390
NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=) rs62208067
NM_001174089.2(SLC4A11):c.1782C>T (p.Asp594=)
NM_001174089.2(SLC4A11):c.1785C>T (p.Cys595=) rs201613216
NM_001174089.2(SLC4A11):c.1959C>A (p.Ser653=) rs140234175
NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=) rs141079217
NM_001174089.2(SLC4A11):c.2061C>T (p.Leu687=) rs140461431
NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr) rs748362724
NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=) rs201982813
NM_001174089.2(SLC4A11):c.2175C>T (p.Asn725=) rs372681319
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg) rs143965185
NM_001174089.2(SLC4A11):c.2184C>T (p.Ile728=) rs1600561128
NM_001174089.2(SLC4A11):c.2193-4G>A rs10048856
NM_001174089.2(SLC4A11):c.2193G>C (p.Thr731=) rs149912717
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=) rs200879869
NM_001174089.2(SLC4A11):c.2292C>T (p.Pro764=) rs139086376
NM_001174089.2(SLC4A11):c.2331C>A (p.Leu777=) rs1568527712
NM_001174089.2(SLC4A11):c.2340C>T (p.Leu780=)
NM_001174089.2(SLC4A11):c.2388+7G>A rs117959552
NM_001174089.2(SLC4A11):c.2391T>G (p.Thr797=) rs7262506
NM_001174089.2(SLC4A11):c.242-5G>A rs775424811
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=) rs58757394
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile) rs34224785
NM_001174089.2(SLC4A11):c.2518A>G (p.Met840Val) rs121909396
NM_001174089.2(SLC4A11):c.2559-5C>T rs561993804
NM_001174089.2(SLC4A11):c.2610C>T (p.Asp870=) rs76962118
NM_001174089.2(SLC4A11):c.330G>A (p.Ala110=) rs200345104
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=) rs34460295
NM_001174089.2(SLC4A11):c.384G>A (p.Thr128=) rs761675091
NM_001174089.2(SLC4A11):c.390C>T (p.Thr130=)
NM_001174089.2(SLC4A11):c.401A>G (p.Asn134Ser) rs34520315
NM_001174089.2(SLC4A11):c.425_432del (p.Arg142fs) rs869320721
NM_001174089.2(SLC4A11):c.426C>T (p.Arg142=) rs35262978
NM_001174089.2(SLC4A11):c.44-8C>G rs146575952
NM_001174089.2(SLC4A11):c.501C>T (p.Ala167=) rs749352950
NM_001174089.2(SLC4A11):c.523+9G>A rs200962876
NM_001174089.2(SLC4A11):c.589T>C (p.Ser197Pro) rs121909395
NM_001174089.2(SLC4A11):c.633G>A (p.Arg211=) rs756221460
NM_001174089.2(SLC4A11):c.735C>T (p.Ser245=) rs150937996
NM_001174089.2(SLC4A11):c.765G>A (p.Thr255=) rs78860240
NM_001174089.2(SLC4A11):c.78C>T (p.Phe26=) rs35732230
NM_001174089.2(SLC4A11):c.897G>A (p.Pro299=) rs200760447
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp) rs138137682
NM_001174089.2(SLC4A11):c.992G>A (p.Arg331Gln) rs112163941
SLC4A11, 32-BP DEL, NT2423
SLC4A11, 8-BP DUP, NT2233

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