List of variants reported as pathogenic for cone-rod dystrophy 2 by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.764G>A (p.Arg255His)	rs148387660	0.00005
NM_006017.3(PROM1):c.1301+2T>C	rs775957498	0.00004
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)	rs761911901	0.00003
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)	rs771038310	0.00001
NM_001330691.3(CEP78):c.1424del (p.Val475fs)	rs1196886096	0.00001
NM_006017.3(PROM1):c.2077-521A>G	rs796051882	0.00001
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter)	rs1439202144	0.00001
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln)	rs751644763	0.00001
NM_000283.4(PDE6B):c.222dup (p.Val75fs)	rs1734066547
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter)	rs1800111659
NM_000350.3(ABCA4):c.346_347del (p.Ala116fs)	rs1662507319
NM_000350.3(ABCA4):c.3639CCA[1] (p.His1215del)	rs1570367398
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu)	rs1383231039
NM_000350.3(ABCA4):c.4269C>T (p.Gly1423=)	rs778456901
NM_000350.3(ABCA4):c.639del (p.Phe213fs)	rs1662213462
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs)	rs1667508280
NM_001042432.2(CLN3):c.1197+2T>A	rs2046020472
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs)	rs2046113301
NM_001330691.3(CEP78):c.1400_1402delinsCTTT (p.Leu467fs)	rs1827340429
NM_001384910.1(GUCA1A):c.443A>C (p.Asp148Ala)	rs1554186472
NM_006017.3(PROM1):c.1578+1G>A	rs1553901823
NM_006017.3(PROM1):c.2211+1G>A	rs1719285721
NM_020366.4(RPGRIP1):c.1612-3C>A	rs1594204748
NM_020366.4(RPGRIP1):c.906+2T>G	rs1594180201
NM_172240.3(POC1B):c.560+2T>G	rs1882924778
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln)	rs1057519162
NM_201548.5(CERKL):c.1564T>G (p.Tyr522Asp)	rs1201433512
NM_201548.5(CERKL):c.541_542delinsTT (p.Glu181Leu)	rs1689012192
NM_206933.4(USH2A):c.1143+1G>A	rs397517974
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)	rs751035557

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