ClinVar Miner

List of variants reported as uncertain significance for cone dystrophy 3 by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001384910.1(GUCA1A):c.204C>G (p.Asp68Glu) rs776251040
NM_001384910.1(GUCA1A):c.238C>A (p.Leu80Ile) rs904381536
NM_001384910.1(GUCA1A):c.444T>A (p.Asp148Glu) rs1768036096
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777

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