List of variants reported as pathogenic for Aland island eye disease

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter)	rs797044676	0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A	rs886044841	0.00001
NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs)	rs2147807115
NM_001256789.3(CACNA1F):c.3236+1G>A	rs1064797371
NM_001256789.3(CACNA1F):c.3598-133_3709-76del	rs2147900556
NM_001256789.3(CACNA1F):c.4260+2del	rs2065655753

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