List of variants in gene CACNA1F reported as likely pathogenic for Retinal dystrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys)	rs1557106557	0.00001
NM_001256789.3(CACNA1F):c.4008+1G>A	rs782557600	0.00001
NM_001256789.3(CACNA1F):c.1159dup (p.Asp387fs)	rs2065833777
NM_001256789.3(CACNA1F):c.1183C>T (p.Gln395Ter)	rs2065833366
NM_001256789.3(CACNA1F):c.2544-2A>T	rs2065753439
NM_001256789.3(CACNA1F):c.2881C>T (p.Arg961Ter)	rs2065740868
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter)	rs2065717735
NM_001256789.3(CACNA1F):c.3406G>T (p.Glu1136Ter)	rs2065701414

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