ClinVar Miner

List of variants studied for cone-rod dystrophy 20 by DBGen Ocular Genomics

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_172240.3(POC1B):c.101-3T>G rs750116711 0.00002
NM_172240.3(POC1B):c.144del (p.Lys48fs) rs753599044 0.00002
NM_172240.3(POC1B):c.1332+5G>A rs1452525918 0.00001
NM_172240.3(POC1B):c.593G>A (p.Gly198Asp) rs774149215

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