ClinVar Miner

List of variants reported as likely pathogenic for corneal endothelial dystrophy

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001174089.2(SLC4A11):c.2192+1G>A rs759540763 0.00005
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg) rs1233324021 0.00001
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg) rs1233324021 0.00001
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys) rs121909391 0.00001
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer) rs1600404795
NM_001083962.2(TCF4):c.775_776dup (p.Glu261fs)
NM_001174089.2(SLC4A11):c.2450C>T (p.Thr817Met)
NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)
NM_001174096.2(ZEB1):c.504del (p.Gln169fs) rs2069829602
NM_001174096.2(ZEB1):c.623dup (p.Tyr208Ter) rs2139506946
NM_001174096.2(ZEB1):c.688-1G>A rs2139622959
NM_001174096.2(ZEB1):c.692_693del (p.His231fs)
NM_001174096.2(ZEB1):c.831del (p.Ser279fs)

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