ClinVar Miner

List of variants studied for corneal endothelial dystrophy by OMIM

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro) rs118020901 0.00680
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp) rs185919705 0.00200
NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser) rs181958589 0.00124
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
NG_011716.2:g.54765TGC[51_?]
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.2019-16_2019-6delinsGGCCGGCCGG rs869320617
NM_001174089.2(SLC4A11):c.2078G>A (p.Gly693Glu) rs267607064
NM_001174089.2(SLC4A11):c.2216G>A (p.Arg739Gln) rs121909387
NM_001174089.2(SLC4A11):c.305_308del (p.Lys102fs) rs869320720
NM_001174089.2(SLC4A11):c.51_52del (p.Pro18fs) rs1600618680
NM_001174096.2(ZEB1):c.1351C>T (p.Gln451Ter) rs2139794959
NM_001174096.2(ZEB1):c.1923G>T (p.Gln641His)
NM_001174096.2(ZEB1):c.1A>C (p.Met1Leu)
NM_001174096.2(ZEB1):c.2252C>A (p.Ser751Ter)
NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs) rs1592143384
NM_001303461.1(OVOL2):c.-297+886T>C rs869320628
NM_001303461.1(OVOL2):c.-297+895_-297+916dup rs869320627
NM_001303461.1(OVOL2):c.-297+949T>C rs869320629
NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp) rs80358192
NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys) rs80358191
NM_005202.4(COL8A2):c.1363_1364delinsGT (p.Gln455Val) rs727504229
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp) rs74315433
NM_021220.4(OVOL2):c.-274T>G rs869320630
NM_024915.4(GRHL2):c.20+133del rs1554579819
NM_024915.4(GRHL2):c.20+544G>T rs1554579878

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