ClinVar Miner

List of variants studied for congenital hereditary endothelial dystrophy of cornea by Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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.2557C>T (p.Arg853Cys) rs121909391 0.00001
NM_001174089.2(SLC4A11):c.1391G>T (p.Ser464Ile)
NM_001174089.2(SLC4A11):c.1418C>G (p.Ser473Trp)
NM_001174089.2(SLC4A11):c.2366dup (p.Ala790fs)

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