ClinVar Miner

List of variants reported as likely pathogenic for Cone/cone-rod dystrophy

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Total variants: 12
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HGVS dbSNP
NM_000180.3(GUCY2D):c.238_252delGCCGCCGCCCGCCTG (p.Ala80_Leu84del) rs952193754
NM_000180.3(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_001079878.2(CNGA3):c.1351G>A (p.Ala451Thr) rs117522010
NM_001079878.2(CNGA3):c.913G>C (p.Ala305Pro) rs146195955
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys) rs1271498710
NM_145200.4(CABP4):c.673C>T (p.Arg225Ter) rs531851447
NM_152384.3(BBS5):c.412C>T (p.Arg138Cys) rs1238632042
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
Single allele

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