ClinVar Miner

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

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_000278.5(PAX2):c.932C>T (p.Ala311Val) rs78738655 0.00126
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415 0.00009
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024 0.00008
NM_012106.4(ARL2BP):c.207+1G>A rs199830550 0.00005
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00002
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu) rs1435861529 0.00002
NM_006269.2(RP1):c.1498_1499del (p.Met500fs) rs765129639 0.00002
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu) rs267598278 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 0.00002
NM_000350.3(ABCA4):c.4253+5G>A rs61750138 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) rs771450991 0.00001
NM_001042472.3(ABHD12):c.193C>T (p.Arg65Ter) rs758316679 0.00001
NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys) rs1557106557 0.00001
NM_001379500.1(COL18A1):c.1897-2A>G rs778612831 0.00001
NM_006017.3(PROM1):c.1002+5G>A rs1196489060 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_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NC_000011.10:g.119346419_119352600del
NC_000015.10:g.89206897_89214258del
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.901_908del (p.Leu301fs) rs1555634713
NM_000322.5(PRPH2):c.259_266del (p.Asp87fs) rs1554270834
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) rs1554269053
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) rs1553192726
NM_000350.3(ABCA4):c.1984dup (p.Ala662fs) rs1553192432
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn) rs1553190559
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter) rs61752419
NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter) rs776757706
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg) rs1553186896
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter) rs1356104318
NM_000390.4(CHM):c.315-1536A>G rs1555955061
NM_001012720.2(RGR):c.*74dup rs1554824273
NM_001023570.4(IQCB1):c.1278+1G>A rs1553711564
NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter) rs750987123
NM_001042472.3(ABHD12):c.620-2A>G rs1555811525
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001142800.2(EYS):c.1211del (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.6726-2973_6834+548del
NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser) rs1555036138
NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp) rs906525288
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001378454.1(ALMS1):c.2955_2956insCTATTCTGGACTG (p.Gly986fs) rs1553403585
NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter) rs1555870809
NM_001379500.1(COL18A1):c.2673del (p.Gly892fs) rs749009747
NM_001384910.1(GUCA1A):c.332A>C (p.Glu111Ala) rs1554186385
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) rs1554085478
NM_004183.4(BEST1):c.-37+1G>T rs1555096248
NM_004525.3(LRP2):c.4733G>C (p.Arg1578Pro) rs111733491
NM_004525.3(LRP2):c.9733G>T (p.Asp3245Tyr) rs759025536
NM_004928.3(CFAP410):c.269G>C (p.Arg90Pro) rs567435284
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs) rs746174328
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) rs780697796
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_015629.4(PRPF31):c.359del (p.Lys120fs) rs1555792415
NM_016247.4(IMPG2):c.1680T>A (p.Tyr560Ter) rs758291149
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_030582.4(COL18A1):c.3364_3371del (p.Gly1122fs) rs1555874538
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter) rs1555037395
NM_033100.4(CDHR1):c.1448A>G (p.Glu483Gly) rs1554857529
NM_033100.4(CDHR1):c.1463del (p.Gly488fs) rs756678484
NM_133497.4(KCNV2):c.107_291dup (p.Thr98fs) rs1554628460
NM_133497.4(KCNV2):c.562T>A (p.Trp188Arg) rs977790637
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs) rs786205121
NM_145200.5(CABP4):c.800-18_*795del rs1554998040
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala) rs773233587
NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr) rs1553249226
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs) rs1553263218
NM_201548.5(CERKL):c.1269-3C>G rs1553512879
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.2705G>A (p.Cys902Tyr) rs780846352
Single allele

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