List of variants reported as pathogenic for autosomal recessive disease by ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen

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Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	rs61752877	0.00013
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	rs61752873	0.00011
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	rs774130993	0.00009
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	rs62653011	0.00008
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	rs121917745	0.00003
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)	rs886042220	0.00003
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	rs121917744	0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	rs368088025	0.00002
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	rs1420672586	0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	rs62642584	0.00002
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	rs61752896	0.00002
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	rs61752909	0.00001
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)	rs1395763356	0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)	rs752058510	0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	rs61752895	0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	rs61752904	0.00001
NM_000329.3(RPE65):c.95-2A>T	rs61751279	0.00001
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	rs62642583
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	rs281865520
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
NM_000329.3(RPE65):c.1115del (p.Pro371_Leu372insTer)
NM_000329.3(RPE65):c.1205_1206insCCTG (p.Trp402fs)
NM_000329.3(RPE65):c.1336dup (p.Arg446fs)
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)	rs1645823028
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)	rs1344724754
NM_000329.3(RPE65):c.361dup (p.Ser121fs)	rs121918844
NM_000329.3(RPE65):c.495+1dup	rs281865288
NM_000329.3(RPE65):c.496-1G>A	rs2100821984
NM_000329.3(RPE65):c.596dup (p.Asn199fs)
NM_000329.3(RPE65):c.615_616del (p.Ile206fs)	rs61752888
NM_000329.3(RPE65):c.675C>A (p.Ile225=)	rs114379164
NM_000329.3(RPE65):c.825C>A (p.Tyr275Ter)
NM_000329.3(RPE65):c.859del	rs2100818777
NM_000329.3(RPE65):c.886dup (p.Arg296fs)	rs746127684
NM_000329.3(RPE65):c.893del (p.Lys298fs)	rs61752902
NM_000329.3(RPE65):c.89dup (p.Thr31fs)	rs281865286
NM_000329.3(RPE65):c.998+1G>A	rs1645879495

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