ClinVar Miner

List of variants studied for CACNA1F-related retinopathy by Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.1234dup (p.Glu412fs) rs2065832850
NM_001256789.3(CACNA1F):c.149_156del (p.Arg50fs) rs2519143271
NM_001256789.3(CACNA1F):c.2007del (p.Lys670fs) rs2520968443
NM_001256789.3(CACNA1F):c.465_466insGT (p.Ser156fs) rs2519139558
NM_001256789.3(CACNA1F):c.4827del (p.Leu1610fs) rs2520742477

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