ClinVar Miner

List of variants in gene SLC4A11 reported as pathogenic for corneal endothelial dystrophy

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
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.2213C>T (p.Thr738Met) rs267607066 0.00003
NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu) rs121909388 0.00001
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter) rs121909390 0.00001
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys) rs121909391 0.00001
NM_001174089.2(SLC4A11):c.2558G>A (p.Arg853His) rs121909392 0.00001
NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter) rs1363770105
NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys) rs267607065
NM_001174089.2(SLC4A11):c.1343G>A (p.Gly448Asp) rs121909389
NM_001174089.2(SLC4A11):c.1418C>G (p.Ser473Trp)
NM_001174089.2(SLC4A11):c.2018+1G>A rs2067654837
NM_001174089.2(SLC4A11):c.2019-16_2019-6delinsGGCCGGCCGG rs869320617
NM_001174089.2(SLC4A11):c.2078G>A (p.Gly693Glu) rs267607064
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter) rs772409032
NM_001174089.2(SLC4A11):c.2216G>A (p.Arg739Gln) rs121909387
NM_001174089.2(SLC4A11):c.2366dup (p.Ala790fs)
NM_001174089.2(SLC4A11):c.305_308del (p.Lys102fs) rs869320720
NM_001174089.2(SLC4A11):c.425_433delinsC (p.Arg142fs) rs797045107
NM_001174089.2(SLC4A11):c.51_52del (p.Pro18fs) rs1600618680

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