ClinVar Miner

List of variants reported as pathogenic by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
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_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968 0.00130
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449 0.00019
NM_001848.3(COL6A1):c.1741-6G>A rs200334019 0.00016
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_004183.4(BEST1):c.418C>G (p.Leu140Val) rs267606678 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_133497.4(KCNV2):c.357dup (p.Lys120fs) rs1402837406 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00002
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter) rs201320564 0.00002
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter) rs1581190641 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) rs797044676 0.00001
NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys) rs1557106557 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025150.5(TARS2):c.695+3A>G rs587777594 0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NC_000023.10:g.100564340_100627836del
NC_000023.10:g.100580141_100619992del
NC_000023.10:g.100582860_100610076del
NC_000023.11:g.101345283_101347393del
NM_000038.6(APC):c.289G>A (p.Gly97Arg) rs2149788254
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000328.2(RPGR):c.*644del rs1601890980
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs) rs1601891967
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer) rs1601891936
NM_000350.2:c.(6816+1_6817-1)_(*1_?)del
NM_000350.3(ABCA4):c.2408del (p.Gly803fs) rs1570386206
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000390.4(CHM):c.757C>T (p.Arg253Ter) rs886041178
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter) rs1581180469
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000535.7:c.(23+1_24-1)_(988+1_989-1)del
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.810C>A (p.Ser270Arg) rs768210562
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
NM_001034853.2(RPGR):c.248-2A>G rs62638633
NM_001034853.2(RPGR):c.28+1G>C rs62638627
NM_001080517.3(SETD5):c.1612C>T (p.Gln538Ter) rs1299627284
NM_001080517.3(SETD5):c.1967del (p.Ser655_Leu656insTer) rs2125280753
NM_001080517.3(SETD5):c.2521G>T (p.Glu841Ter) rs2125500010
NM_001083962.2(TCF4):c.655+1G>A rs587784465
NM_001098.3(ACO2):c.1776T>A (p.Cys592Ter) rs368044961
NM_001123385.2(BCOR):c.4328_4329del (p.Thr1443fs) rs2147004911
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs) rs1555755977
NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup
NM_001142800.1(EYS):c.6079_6191del
NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del
NM_001142800.2(EYS):c.232del (p.Cys78fs) rs1468020897
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs) rs1582221424
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001197104.2(KMT2A):c.7990del (p.Ala2664fs) rs2134395799
NM_001197104.2(KMT2A):c.9447_9450dup (p.Ser3151fs) rs2134405469
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001297.5(CNGB1):c.2166+1G>A rs1596976316
NM_001349338.3(FOXP1):c.488del (p.His163fs) rs2107113481
NM_001349338.3(FOXP1):c.825del (p.Ser276fs) rs2106870085
NM_001370100.5(ZMYND11):c.1769G>A (p.Trp590Ter) rs2132046225
NM_001374828.1(ARID1B):c.4552C>T (p.Gln1518Ter) rs1554235541
NM_001378418.1(TCF20):c.1411C>T (p.Gln471Ter) rs2147217152
NM_001378418.1(TCF20):c.2748del (p.Met917fs) rs2147209884
NM_001379403.1(WDR26):c.1822C>T (p.Arg608Ter) rs2102891563
NM_001399.5(EDA):c.706+1G>C rs886039344
NM_001830.4(CLCN4):c.112G>T (p.Glu38Ter) rs2147167432
NM_001845.6(COL4A1):c.3407-2del rs2139159594
NM_002715.4(PPP2CA):c.576+1G>A rs2149383143
NM_002816.5(PSMD12):c.1078G>T (p.Glu360Ter) rs2143688328
NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer) rs2143446286
NM_003106.4(SOX2):c.764_767dup (p.Ser257fs) rs2108523389
NM_003482.4(KMT2D):c.3907-2_3907-1del rs2120632541
NM_003483.6(HMGA2):c.47dup (p.Gln18fs) rs2120807666
NM_004183.4(BEST1):c.58C>G (p.Leu20Val) rs1591266379
NM_004183.4(BEST1):c.904G>A (p.Asp302Asn) rs281865262
NM_004183.4(BEST1):c.905A>C (p.Asp302Ala) rs281865263
NM_004187.5(KDM5C):c.12dup (p.Ser5fs) rs2146978931
NM_004287.5(GOSR2):c.319C>T (p.Arg107Ter) rs201616211
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs) rs2106317762
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter) rs2151308835
NM_004523.4(KIF11):c.2441_2442insTTCTT (p.Glu814fs) rs2135923459
NM_004560.4(ROR2):c.1184-1G>T rs2118645585
NM_005199.5(CHRNG):c.814del (p.Gln272fs) rs2106221927
NM_005321.3(H1-4):c.416_419dup (p.Ala141fs) rs2113826976
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006269.2(RP1):c.2585C>G (p.Ser862Ter) rs1585563965
NM_006269.2(RP1):c.2690_2695del (p.Ser897_Lys899delinsTer) rs1585564175
NM_006343.2:c.(?_-1)_(1144+1_1145-1)del
NM_006915.3(RP2):c.16_18del (p.Ser6del) rs137852284
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_006941.4(SOX10):c.1160_1179dup (p.Ser394fs) rs1601878759
NM_006941.4(SOX10):c.267del (p.Met90fs) rs2145777226
NM_006941.4(SOX10):c.299_300insA (p.Ser100fs) rs2145777129
NM_006941.4(SOX10):c.336G>A (p.Met112Ile) rs2145777042
NM_006941.4(SOX10):c.366_376del (p.Ala123fs) rs2145776991
NM_012330.4(KAT6B):c.3665-1G>C rs2134232474
NM_013275.6(ANKRD11):c.1901_1904del (p.Thr634fs) rs2151762177
NM_013275.6(ANKRD11):c.3693_3697del (p.Asp1231fs) rs2151753736
NM_013275.6(ANKRD11):c.5447del (p.Pro1816fs) rs2151744307
NM_013275.6(ANKRD11):c.7470+1G>C rs2151728882
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) rs1284009768
NM_014795.3:c.1439_1440insAlu
NM_015335.5(MED13L):c.3309del (p.Glu1105fs) rs2137307119
NM_015629.3(PRPF31):c.(238+1_239-1)_(420+1_421-1)dup
NM_015629.4(PRPF31):c.997del (p.Glu333fs) rs1600355502
NM_016628.5(WAC):c.1503dup (p.Asp502Ter) rs2132853185
NM_017635.5(KMT5B):c.1530_1534del (p.His512fs) rs2153040748
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_022124.6(CDH23):c.5710_5712+3del rs1589420011
NM_022893.4(BCL11A):c.3G>A (p.Met1Ile) rs2104801406
NM_024496.4(IRF2BPL):c.1693C>T (p.Gln565Ter) rs1466417547
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter) rs1429360126
NM_030632.3(ASXL3):c.3443dup (p.Pro1148_Glu1149insTer) rs2145424341
NM_031885.5(BBS2):c.1290dup (p.His431fs) rs777420525
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_057175.5(NAA15):c.2320_2332del (p.Tyr774fs) rs2111009771
NM_152641.4(ARID2):c.4210dup (p.Gln1404fs) rs2138177931
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu) rs1747645807
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter) rs1571941589
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043

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