ClinVar Miner

List of variants reported as likely pathogenic for Abnormality of the eye

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Total variants: 17
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HGVS dbSNP
NM_000372.5(TYR):c.1037G>T (p.Gly346Val) rs773970123
NM_000390.4(CHM):c.315-1536A>G rs1555955061
NM_001134831.2(AHI1):c.1912+1488_2036+506del
NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459
NM_001256789.3(CACNA1F):c.3595C>T (p.Gln1199Ter) rs782362725
NM_001298.3(CNGA3):c.107_110del (p.His36fs) rs749036398
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) rs552069173
NM_005272.4(GNAT2):c.906C>A (p.Tyr302Ter) rs1553226355
NM_006744.4(RBP4):c.248+1G>A rs111785373
NM_006915.3(RP2):c.43del (p.Ser15fs) rs1556313474
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) rs772881093
NM_017662.5(TRPM6):c.2920-806_3404-1965del
NM_019098.4(CNGB3):c.1285del (p.Ser429fs) rs776896038
NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087
NM_020366.3(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539
NM_022567.2(NYX):c.936C>G (p.Asn312Lys) rs1555967263
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356

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