ClinVar Miner

List of variants studied for Fuchs' endothelial dystrophy

Included ClinVar conditions (8):
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Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_005202.4(COL8A2):c.193+34C>T rs274754 0.62904
NM_001083962.2(TCF4):c.789+23C>T rs1788027 0.53241
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.37317
NM_001083962.2(TCF4):c.305-165C>T rs17522826 0.15868
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_001174096.2(ZEB1):c.2414T>C (p.Ile805Thr) rs1577181 0.00096
NM_001174096.2(ZEB1):c.699G>A (p.Thr233=) rs149166539 0.00082
NM_001083962.2(TCF4):c.*5-10C>T rs552239655 0.00052
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_001083962.2(TCF4):c.923-17G>T rs550597992 0.00010
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.1862G>A (p.Arg621His) rs751797233 0.00003
NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met) rs267607066 0.00003
NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser) rs745458688 0.00002
NM_001083962.2(TCF4):c.550-22780G>A rs962581774 0.00001
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg) rs1233324021 0.00001
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg) rs1233324021 0.00001
NG_011716.2:g.54765TGC[51_?]
NM_001083962.2(TCF4):c.-21+2T>A rs1568471128
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer) rs1600404795
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser) rs755332116
NM_001083962.2(TCF4):c.306_307del (p.Ser102fs)
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter) rs878853149
NM_001083962.2(TCF4):c.696del (p.Gly232_Met233insTer) rs1568622225
NM_001083962.2(TCF4):c.710_711insT (p.Tyr238fs)
NM_001083962.2(TCF4):c.775_776dup (p.Glu261fs)
NM_001083962.2(TCF4):c.785G>A (p.Arg262His) rs1555796645
NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys) rs267607065
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met) rs755379986
NM_001174089.2(SLC4A11):c.2078G>A (p.Gly693Glu) rs267607064
NM_001174089.2(SLC4A11):c.20G>T (p.Arg7Leu) rs2068078358
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter) rs772409032
NM_001174089.2(SLC4A11):c.51_52del (p.Pro18fs) rs1600618680
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe) rs2122588507
NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)
NM_001174096.2(ZEB1):c.1923G>T (p.Gln641His)
NM_001174096.2(ZEB1):c.504del (p.Gln169fs) rs2069829602
NM_001174096.2(ZEB1):c.831del (p.Ser279fs)
NM_001386094.1(AGBL1):c.785A>C (p.Gln262Pro)
NM_005202.4(COL8A2):c.*12G>T rs3738360
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_152336.4(AGBL1):c.3323+1G>A rs79072327

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