List of variants reported as likely pathogenic for Leber congenital amaurosis 2; Retinitis pigmentosa 20 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)	rs768445391	0.00003
NM_000329.3(RPE65):c.11+2T>G	rs778768116	0.00001
NM_000329.3(RPE65):c.235T>C (p.Tyr79His)	rs61752869	0.00001
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)	rs1571170561	0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)	rs774309607	0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg)	rs1375943362	0.00001
NM_000329.3(RPE65):c.1021T>A (p.Leu341Ile)
NM_000329.3(RPE65):c.1040G>A (p.Arg347His)	rs562037932
NM_000329.3(RPE65):c.1129-1G>A
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)	rs2523452284
NM_000329.3(RPE65):c.12-1G>C	rs1348031618
NM_000329.3(RPE65):c.12-2A>T	rs1400678650
NM_000329.3(RPE65):c.1243+1G>A	rs1421696563
NM_000329.3(RPE65):c.1243+1G>C	rs1421696563
NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)	rs2523403039
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)	rs34627040
NM_000329.3(RPE65):c.1339-2A>G	rs1645823354
NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr)	rs1395763356
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)	rs1395763356
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs)	rs2100806889
NM_000329.3(RPE65):c.209T>C (p.Phe70Ser)	rs1645945363
NM_000329.3(RPE65):c.354-1G>A	rs2100827985
NM_000329.3(RPE65):c.354-1G>T	rs2100827985
NM_000329.3(RPE65):c.354-2del	rs2100827990
NM_000329.3(RPE65):c.496-1G>A	rs2100821984
NM_000329.3(RPE65):c.643+2T>A	rs1645896934
NM_000329.3(RPE65):c.644-2A>G	rs61752891
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	rs192907397
NM_000329.3(RPE65):c.859-2A>C	rs980844308

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