List of variants in gene CACNA1F reported by Laboratory of Genetics in Ophthalmology, Institut Imagine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)	rs782034481	0.00001
NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs)	rs2065808928
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg)	rs2065788651
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)	rs2065880189
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter)	rs2065717735
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp)	rs2065717075
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)	rs1602630650
NM_001256789.3(CACNA1F):c.818-820del	rs2065854138

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