ClinVar Miner

List of variants reported as pathogenic for Retinal dystrophy by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00002
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_001042472.3(ABHD12):c.193C>T (p.Arg65Ter) rs758316679 0.00001
NM_006017.3(PROM1):c.1579-1G>C rs372513650 0.00001
NM_006017.3(PROM1):c.730C>T (p.Arg244Ter) rs373331232 0.00001
NM_000322.5(PRPH2):c.259_266del (p.Asp87fs) rs1554270834
NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) rs1553192726
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter) rs61752419
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_001012720.2(RGR):c.*74dup rs1554824273
NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter) rs750987123
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_004183.4(BEST1):c.-37+1G>T rs1555096248
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) rs780697796
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_016247.4(IMPG2):c.1680T>A (p.Tyr560Ter) rs758291149
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_033100.4(CDHR1):c.1463del (p.Gly488fs) rs756678484
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs) rs786205121
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs) rs1553263218
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715

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