List of variants in gene CACNA1F reported as likely pathogenic for blindness (disorder)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001256789.3(CACNA1F):c.1234dup (p.Glu412fs)
NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter)	rs1557110046
NM_001256789.3(CACNA1F):c.1433_1463+7del	rs1557109912
NM_001256789.3(CACNA1F):c.149_156del (p.Arg50fs)
NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs)	rs1557109796
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg)	rs2065788651
NM_001256789.3(CACNA1F):c.2007del (p.Lys670fs)
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)	rs2065880189
NM_001256789.3(CACNA1F):c.2733+1G>A	rs1557108147
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)	rs1249437161
NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys)	rs1557107417
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp)	rs2065717075
NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs)	rs1557107192
NM_001256789.3(CACNA1F):c.3481del (p.Arg1161fs)
NM_001256789.3(CACNA1F):c.4261-9G>A	rs1602628429
NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu)	rs1557106008
NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu)	rs1602627593
NM_001256789.3(CACNA1F):c.465_466insGT (p.Ser156fs)
NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter)	rs1557110988
NM_001256789.3(CACNA1F):c.818-820del	rs2065854138
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)	rs1557110499

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