ClinVar Miner

List of variants reported as benign for Fuchs' endothelial dystrophy

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005202.4(COL8A2):c.193+34C>T rs274754 0.62551
NM_001083962.2(TCF4):c.789+23C>T rs1788027 0.53030
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.36950
NM_001083962.2(TCF4):c.305-165C>T rs17522826 0.15868
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_001386094.1(AGBL1):c.1641G>T (p.Met547Ile) rs143113232 0.00007
NM_001386094.1(AGBL1):c.2423G>C (p.Ser808Thr)
NM_001386094.1(AGBL1):c.861C>T (p.Pro287=)
NM_005202.4(COL8A2):c.*12G>T rs3738360
NM_152336.4(AGBL1):c.3285A>C (p.Thr1095=)

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