ClinVar Miner

List of variants studied for cone dystrophy 4 by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser) rs1564801134
NM_006204.4(PDE6C):c.2036+2T>G rs1589704707
NM_006204.4(PDE6C):c.435G>A (p.Trp145Ter) rs1589690942

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