List of variants reported as likely pathogenic for Leber congenital amaurosis 4 by 3billion

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)	rs201883601	0.00001
NM_014336.5(AIPL1):c.40A>G (p.Lys14Glu)	rs2543921956
NM_014336.5(AIPL1):c.814del (p.Arg272fs)	rs2150675032
NM_014336.5(AIPL1):c.963_993dup (p.Thr332fs)	rs2150674258

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