List of variants reported as likely pathogenic for CACNA1F-related retinopathy

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)	rs1249437161	0.00002
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)	rs886039559	0.00001
NM_001256789.3(CACNA1F):c.1019_1025del
NM_001256789.3(CACNA1F):c.1234dup (p.Glu412fs)	rs2065832850
NM_001256789.3(CACNA1F):c.149_156del (p.Arg50fs)	rs2519143271
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg)	rs2065788651
NM_001256789.3(CACNA1F):c.2007del (p.Lys670fs)	rs2520968443
NM_001256789.3(CACNA1F):c.2086-1G>C	rs2520965630
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)	rs2065880189
NM_001256789.3(CACNA1F):c.3037-2A>G	rs1057516199
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp)	rs2065717075
NM_001256789.3(CACNA1F):c.3481del (p.Arg1161fs)	rs2520867977
NM_001256789.3(CACNA1F):c.3591_3595dup (p.Gln1199fs)	rs2520865607
NM_001256789.3(CACNA1F):c.3708+2T>C	rs2520852085
NM_001256789.3(CACNA1F):c.4186_4187insCCCTA (p.Gly1396fs)	rs2520789817
NM_001256789.3(CACNA1F):c.4190_4191del (p.Glu1397fs)	rs2147897090
NM_001256789.3(CACNA1F):c.4561C>G (p.Arg1521Gly)	rs1335615080
NM_001256789.3(CACNA1F):c.465_466insGT (p.Ser156fs)	rs2519139558
NM_001256789.3(CACNA1F):c.4827del (p.Leu1610fs)	rs2520742477
NM_001256789.3(CACNA1F):c.818-820del	rs2065854138
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu)	rs150146590
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile)	rs773516968

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