ClinVar Miner

List of variants reported as likely benign for cone dystrophy 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala) rs12261131 0.02167
NM_006204.4(PDE6C):c.2208+14A>C rs61701022 0.00810
NM_006204.4(PDE6C):c.*26A>G rs112520932 0.00703
NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile) rs62642544 0.00670
NM_006204.4(PDE6C):c.724-15G>T rs141403797 0.00596
NM_006204.4(PDE6C):c.1936-9A>G rs182445749 0.00536
NM_006204.4(PDE6C):c.*209T>C rs530054025 0.00006
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006204.4(PDE6C):c.2466G>C (p.Lys822Asn) rs79487435

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