List of variants in gene RPE65 reported as pathogenic for Leber congenital amaurosis

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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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.271C>T (p.Arg91Trp)	rs61752871	0.00006
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	rs61751282	0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	rs61751277	0.00004
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	rs61751281	0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	rs121917745	0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	rs61752905	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.1451G>T (p.Gly484Val)	rs62653015	0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	rs61752883	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.938A>G (p.His313Arg)	rs1375943362	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.1067del (p.Asn356fs)	rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	rs281865520
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)	rs1553152989
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)	rs1395763356
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	rs62653015
NM_000329.3(RPE65):c.227A>C (p.His76Pro)	rs1571172233
NM_000329.3(RPE65):c.361dup (p.Ser121fs)	rs121918844
NM_000329.3(RPE65):c.440_441del (p.Thr147fs)	rs1201299067
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)	rs373652862
NM_000329.3(RPE65):c.893del (p.Lys298fs)	rs61752902
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)	rs768448761

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