ClinVar Miner

List of variants reported as likely pathogenic for retinal disorder by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00006
NM_004183.4(BEST1):c.1552G>T (p.Glu518Ter) rs370835731 0.00005
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_000321.3(RB1):c.1389+5G>C rs1131690859
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2279T>C (p.Phe760Ser) rs1949430890
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter) rs1570382663
NM_000539.3(RHO):c.553T>C (p.Cys185Arg) rs1236550448
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) rs1001151383
NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg) rs1249437161
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001851.6(COL9A1):c.1450-1G>T
NM_001854.4(COL11A1):c.3276+1G>C rs2101406339
NM_004183.4(BEST1):c.1622del (p.Leu541fs) rs1942209287
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_014249.4(NR2E3):c.349G>A (p.Ala117Thr) rs1259983553
NM_152419.3(HGSNAT):c.1708del (p.Thr570fs) rs1804782152
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_206933.4(USH2A):c.2168-2A>G rs993185407

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