ClinVar Miner

List of variants studied for Fuchs' endothelial dystrophy by Genome-Nilou Lab

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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_005202.4(COL8A2):c.*12G>T rs3738360

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