List of variants reported as uncertain significance for corneal endothelial dystrophy

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		ClinVar version:

Total variants: 61

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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.2496G>A (p.Met832Ile)	rs34224785	0.00886
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_014588.5(VSX1):c.-244G>T	rs567067551	0.00108
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu)	rs369865672	0.00087
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)	rs138262189	0.00042
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg)	rs143965185	0.00029
NM_014588.6(VSX1):c.*416T>C	rs976857671	0.00016
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln)	rs142411476	0.00014
NM_014588.6(VSX1):c.281C>A (p.Ala94Glu)	rs886056557	0.00013
NM_014588.5(VSX1):c.*820T>C	rs186958062	0.00011
NM_024915.4(GRHL2):c.641G>A (p.Ser214Asn)	rs199931364	0.00011
NM_014588.6(VSX1):c.*506T>C	rs886056554	0.00010
NM_014588.6(VSX1):c.165C>A (p.Cys55Ter)	rs756572706	0.00009
NM_014588.6(VSX1):c.389G>A (p.Gly130Asp)	rs112232028	0.00009
NM_014588.6(VSX1):c.*112A>G	rs757521024	0.00008
NM_014588.6(VSX1):c.*223G>A	rs752720378	0.00006
NM_014588.6(VSX1):c.379C>T (p.Pro127Ser)	rs1427801501	0.00006
NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr)	rs752287261	0.00005
NM_014588.6(VSX1):c.*169G>A	rs1437204062	0.00004
NM_014588.6(VSX1):c.*64G>T	rs908641940	0.00004
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His)	rs751797233	0.00003
NM_014588.6(VSX1):c.496C>T (p.Arg166Trp)	rs74315432	0.00003
NM_001174089.2(SLC4A11):c.746C>T (p.Ala249Val)	rs771135532	0.00002
NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser)	rs745458688	0.00002
NM_014588.5(VSX1):c.-175C>G	rs752774218	0.00002
NM_001083962.2(TCF4):c.550-22780G>A	rs962581774	0.00001
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys)	rs762942751	0.00001
NM_014588.5(VSX1):c.-271G>T	rs886056560	0.00001
NM_014588.6(VSX1):c.*159G>A	rs747213856	0.00001
NM_014588.6(VSX1):c.*749C>T	rs191546716	0.00001
NM_014588.6(VSX1):c.*89T>C	rs886056555	0.00001
NM_014588.6(VSX1):c.378G>A (p.Pro126=)	rs993182248	0.00001
NM_014588.6(VSX1):c.387C>G (p.Leu129=)	rs757690043	0.00001
NM_014588.6(VSX1):c.485G>A (p.Arg162Lys)	rs371672721	0.00001
NM_014588.6(VSX1):c.557C>T (p.Ala186Val)	rs767762959	0.00001
NM_014588.6(VSX1):c.768C>T (p.Ala256=)	rs1457505437	0.00001
NM_014588.6(VSX1):c.83C>T (p.Pro28Leu)	rs370818926	0.00001
NM_001083962.2(TCF4):c.-21+2T>A	rs1568471128
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser)	rs755332116
NM_001083962.2(TCF4):c.785G>A (p.Arg262His)	rs1555796645
NM_001174089.2(SLC4A11):c.1391G>T (p.Ser464Ile)
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met)	rs755379986
NM_001174089.2(SLC4A11):c.20G>T (p.Arg7Leu)	rs2068078358
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys)	rs1482631297
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)	rs2122588507
NM_001386094.1(AGBL1):c.785A>C (p.Gln262Pro)
NM_014588.5(VSX1):c.-239G>C	rs886056559
NM_014588.5(VSX1):c.-274_-270GGGGT[3]	rs144366921
NM_014588.5(VSX1):c.-61C>G	rs886056558
NM_014588.6(VSX1):c.*396T>G	rs2089477655
NM_014588.6(VSX1):c.*610G>A	rs760422181
NM_014588.6(VSX1):c.*88C>G	rs886056556
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)	rs74315433
NM_014588.6(VSX1):c.578C>T (p.Ala193Val)	rs2089572820
NM_014588.6(VSX1):c.871C>T (p.Leu291Phe)	rs762996146
NM_021220.4(OVOL2):c.253G>C (p.Gly85Arg)
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met)	rs370196002
NM_057088.3(KRT3):c.130_131delinsAC (p.Gly44Thr)	rs1939636114
NM_152336.4(AGBL1):c.3323+1G>A	rs79072327

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