ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 366
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926 0.00329
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_001142800.2(EYS):c.1459+5C>T rs200387978 0.00061
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_145290.4(ADGRA3):c.2392C>T (p.Leu798Phe) rs149451001 0.00048
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) rs146503501 0.00028
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868 0.00025
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp) rs1058635 0.00009
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) rs140540222 0.00009
NM_012208.4(HARS2):c.172A>G (p.Lys58Glu) rs201392711 0.00007
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_014249.4(NR2E3):c.481del (p.Thr161fs) rs759339012 0.00006
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_000539.3(RHO):c.203T>G (p.Leu68Arg) rs137883686 0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412 0.00004
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) rs374714909 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_004183.4(BEST1):c.936C>A (p.Asp312Glu) rs748351421 0.00004
NM_004287.5(GOSR2):c.204-7A>G rs746177544 0.00004
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter) rs1382181446 0.00004
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032 0.00003
NM_006915.3(RP2):c.49C>T (p.Pro17Ser) rs782103396 0.00003
NM_020812.4(DOCK6):c.387C>G (p.Tyr129Ter) rs752015120 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00002
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu) rs919157306 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter) rs267606875 0.00002
NM_016247.4(IMPG2):c.911G>A (p.Gly304Asp) rs749723076 0.00002
NM_017613.4(DONSON):c.1254dup (p.Lys419Ter) rs765112107 0.00002
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys) rs760208518 0.00002
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_000283.4(PDE6B):c.293G>A (p.Arg98His) rs776050413 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys) rs762150575 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000440.3(PDE6A):c.1620+1G>A rs781377291 0.00001
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter) rs1163046936 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) rs753314164 0.00001
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001297.5(CNGB1):c.2570_2571insT (p.Glu857fs) rs775887058 0.00001
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter) rs764896693 0.00001
NM_001379659.1(ZNF142):c.1765_1766del (p.Asp589fs) rs750681891 0.00001
NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter) rs141396971 0.00001
NM_005378.6(MYCN):c.77C>T (p.Pro26Leu) rs1662700407 0.00001
NM_005529.7(HSPG2):c.9109C>T (p.Gln3037Ter) rs898553156 0.00001
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084 0.00001
NM_012208.4(HARS2):c.259C>T (p.Arg87Cys) rs754069818 0.00001
NM_022124.6(CDH23):c.4504C>T (p.Arg1502Ter) rs769742202 0.00001
NM_024649.5(BBS1):c.1473+4A>G rs1486200900 0.00001
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu) rs767519084 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NC_012920.1(MT-CYB):m.14701C>T rs1569484669
NM_000051.4:c.(331+1_332-1)_(496+1_497-1)del
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.7855T>C (p.Trp2619Arg) rs1593923998
NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro) rs121434544
NM_000088.4(COL1A1):c.3347_3364del (p.Leu1116_Gly1121del) rs2144542232
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn) rs2055165476
NM_000168.6(GLI3):c.4346del (p.Gly1449fs) rs2128704936
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val) rs2151802780
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs) rs1598149659
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
NM_000260.4(MYO7A):c.882_886dup (p.Gln296fs) rs1591277785
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.4(PDE6B):c.1654del (p.Arg552fs) rs1577296602
NM_000283.4(PDE6B):c.1670A>G (p.His557Arg) rs536742386
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.207dup (p.Ile70fs) rs750147338
NM_000314.8(PTEN):c.209+2047A>G
NM_000322.5(PRPH2):c.276dup (p.Arg93fs) rs1582780842
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter) rs1582780550
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter) rs61755811
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.808_818del (p.Leu270fs) rs1582764504
NM_000322.5(PRPH2):c.811del (p.Leu271fs) rs1582764528
NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg) rs762326108
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs) rs1601892395
NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg) rs886039299
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile) rs886044728
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter) rs1570382663
NM_000350.3(ABCA4):c.2680dup (p.Leu894fs) rs1570380080
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys) rs1570377861
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu) rs1570370929
NM_000350.3(ABCA4):c.3767_3768dup (p.Leu1257fs) rs1570367144
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs) rs1571264574
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro) rs1571264551
NM_000350.3(ABCA4):c.5528_5533del (p.Arg1843_Gly1844del) rs1571250020
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
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.6386+1G>A rs745654673
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys) rs1571241947
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu) rs1571241930
NM_000390.4(CHM):c.3G>A (p.Met1Ile) rs1603288875
NM_000440.3(PDE6A):c.1407+1G>A rs781616522
NM_000440.3(PDE6A):c.1A>G (p.Met1Val) rs976670244
NM_000440.3(PDE6A):c.612del (p.Lys205fs) rs1265680220
NM_000440.3(PDE6A):c.627+2T>G rs1581211727
NM_000463.3(UGT1A1):c.2_17del (p.Met1fs) rs2125981899
NM_000516.7(GNAS):c.154G>A (p.Gly52Ser) rs2146005656
NM_000539.3(RHO):c.1033G>T (p.Val345Leu) rs104893795
NM_000539.3(RHO):c.265G>C (p.Gly89Arg) rs1578278354
NM_000539.3(RHO):c.908C>G (p.Pro303Arg) rs1578281100
NM_000539.3(RHO):c.934C>T (p.Gln312Ter) rs1578281136
NM_000541.4:c.513_806del
NM_000546.6(TP53):c.325T>A (p.Phe109Ile)
NM_000548.5(TSC2):c.1257+5G>A rs2151157428
NM_000554.6(CRX):c.127C>T (p.Arg43Cys) rs1437021651
NM_000554.6(CRX):c.381dup (p.Ser128fs) rs1599991268
NM_000554.6(CRX):c.684G>C (p.Gln228His) rs756105390
NM_000554.6(CRX):c.827G>A (p.Trp276Ter) rs1599992622
NM_000612.6(IGF2):c.59C>A (p.Ser20Ter) rs142012621
NM_000834.5(GRIN2B):c.1685T>G (p.Met562Arg) rs1949368766
NM_000883.4(IMPDH1):c.402+1G>T rs1562998089
NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val) rs1584728088
NM_001001557.4(GDF6):c.986_1005del (p.Pro329fs) rs2130205786
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001029883.3(PCARE):c.2985dup (p.Pro996fs) rs1572826522
NM_001034853.2(RPGR):c.1179T>G (p.Tyr393Ter) rs1601943462
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_001034853.2(RPGR):c.1236_1239del (p.Glu414fs) rs1601943227
NM_001034853.2(RPGR):c.155-1G>A rs1601982595
NM_001034853.2(RPGR):c.1573-3C>G rs1601926845
NM_001034853.2(RPGR):c.1731dup (p.Ala578fs) rs1601926125
NM_001042424.3(NSD2):c.4071del (p.Trp1358fs) rs2109035117
NM_001048166.1(STIL):c.1078C>T (p.Gln360Ter) rs2149046665
NM_001083962.2(TCF4):c.1485_1486dup (p.Gly496fs) rs2144675392
NM_001100913.3(PACS2):c.598G>A (p.Glu200Lys) rs1555408385
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) rs1554329216
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) rs398123614
NM_001110556.2(FLNA):c.5183G>T (p.Gly1728Val) rs2148107380
NM_001110792.2(MECP2):c.1072A>C (p.Ser358Arg) rs2148661474
NM_001128178.3(NPHP1):c.865C>T (p.Gln289Ter) rs2104548702
NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu) rs2131682815
NM_001134407.3(GRIN2A):c.1904C>A (p.Ala635Asp) rs2042448930
NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.350del (p.Asn117fs) rs1582376609
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.7412-1G>C rs1167742176
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter) rs777482895
NM_001164508.2(NEB):c.21417+1G>A rs2153515061
NM_001170629.2(CHD8):c.1931T>C (p.Val644Ala) rs2139499311
NM_001190274.2(FBXO11):c.1783G>A (p.Gly595Ser) rs2104716065
NM_001194998.2(CEP152):c.467dup (p.Gln157fs) rs1208144689
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
NM_001204.7(BMPR2):c.2454_2455del (p.His819fs) rs2105712267
NM_001242957.3(MAK):c.1143dup (p.Lys382Ter) rs1581697849
NM_001256789.3(CACNA1F):c.818-1G>A rs1602653742
NM_001297.5(CNGB1):c.1345del (p.Ala449fs) rs1596996962
NM_001297.5(CNGB1):c.2271del (p.Asn758fs) rs1596974169
NM_001297.5(CNGB1):c.3131_3149dup (p.Phe1051fs) rs1365926616
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu) rs781602116
NM_001372066.1(TFAP2A):c.739A>G (p.Asn247Asp) rs2114014223
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr) rs1583516082
NM_001378454.1(ALMS1):c.4147dup (p.Gln1383fs) rs1572934951
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379659.1(ZNF142):c.2510del (p.Pro837fs) rs34864794
NM_001382567.1(STIM1):c.1403del (p.Pro468fs) rs2133226731
NM_001793.6(CDH3):c.3G>A (p.Met1Ile) rs1238109100
NM_001845.6(COL4A1):c.3298G>T (p.Gly1100Trp) rs2139160332
NM_001846.4(COL4A2):c.668G>A (p.Gly223Glu) rs2139460629
NM_001849.4(COL6A2):c.901-3C>G rs112317259
NM_001854.4(COL11A1):c.2752A>G (p.Arg918Gly) rs2101678782
NM_002294.3(LAMP2):c.768del (p.Asn257fs) rs2147281483
NM_002317.7(LOX):c.749A>G (p.Tyr250Cys) rs2152590304
NM_002470.4(MYH3):c.850_851del (p.Tyr284fs) rs2142413600
NM_002480.3(PPP1R12A):c.2801del (p.Lys934fs) rs2136997832
NM_002585.4(PBX1):c.703C>T (p.Arg235Trp) rs1571445295
NM_002834.5(PTPN11):c.1070del (p.Thr357fs) rs2135902166
NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter) rs1594580431
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter) rs2143450145
NM_003036.4(SKI):c.106G>C (p.Ala36Pro) rs2100789569
NM_003322.6(TULP1):c.361G>T (p.Glu121Ter) rs1581744084
NM_003403.5(YY1):c.1121T>G (p.Val374Gly) rs2139605785
NM_003632.3(CNTNAP1):c.1046G>T (p.Gly349Val) rs2053035301
NM_003632.3(CNTNAP1):c.1823del (p.Leu608fs) rs2143661323
NM_003718.5(CDK13):c.2563G>T (p.Asp855Tyr) rs2150517037
NM_004183.4(BEST1):c.1030C>T (p.Gln344Ter) rs1591303900
NM_004183.4(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.4(BEST1):c.287A>G (p.Gln96Arg) rs1225032182
NM_004183.4(BEST1):c.295A>C (p.Asn99His) rs1591283811
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser) rs281865255
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp) rs1768488927
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln) rs267606752
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu) rs928061320
NM_004463.3(FGD1):c.1336G>T (p.Glu446Ter) rs2147434002
NM_004656.4(BAP1):c.422A>G (p.His141Arg) rs1705201896
NM_004744.5(LRAT):c.264_265dup (p.Gln89fs) rs1578860254
NM_004826.4(ECEL1):c.870C>A (p.Tyr290Ter) rs1281396824
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter) rs2106221597
NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter) rs1308325707
NM_005548.3(KARS1):c.256C>T (p.Gln86Ter) rs2151809445
NM_005634.3(SOX3):c.449C>A (p.Ser150Tyr) rs1556518231
NM_005859.5(PURA):c.469A>G (p.Met157Val) rs2126749113
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) rs766357803
NM_006017.3(PROM1):c.630+2T>A rs1578097528
NM_006086.4(TUBB3):c.929A>G (p.Tyr310Cys) rs2151092964
NM_006236.3(POU3F3):c.1009G>A (p.Gly337Ser)
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter) rs1563329888
NM_006269.2(RP1):c.2026del (p.Ser676fs) rs1585563087
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter) rs1250214380
NM_006269.2(RP1):c.2115del (p.Gly706fs) rs1585563204
NM_006269.2(RP1):c.269del (p.His90fs) rs1585557752
NM_006269.2(RP1):c.3688C>T (p.Gln1230Ter) rs879399888
NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter) rs1585567204
NM_006269.2(RP1):c.830_831del (p.Ser277fs) rs1585561400
NM_006306.4(SMC1A):c.1102G>A (p.Glu368Lys) rs2146604722
NM_006343.2(MERTK):c.62_482dup
NM_006343.3(MERTK):c.757+1G>A rs1573592124
NM_006343.3(MERTK):c.960+1G>A rs1573607809
NM_006701.5(TXNL4A):c.288dup (p.Gly97fs) rs1568360069
NM_006899.5(IDH3B):c.59del (p.Pro20fs) rs747812567
NM_006915.3(RP2):c.352C>G (p.Arg118Gly) rs1556318633
NM_006915.3(RP2):c.390T>A (p.Cys130Ter) rs1602347792
NM_006915.3(RP2):c.826del (p.Asp276fs) rs1602349705
NM_006918.5(SC5D):c.268_269del (p.Leu90fs) rs541905827
NM_006941.4(SOX10):c.335T>C (p.Met112Thr) rs1932463844
NM_006941.4(SOX10):c.422T>C (p.Leu141Pro) rs2145776911
NM_007118.4(TRIO):c.1665_1666delinsTT (p.Trp555_Gln556delinsCysTer) rs2152305937
NM_007118.4(TRIO):c.5680T>A (p.Leu1894Ile) rs2126522675
NM_007118.4(TRIO):c.704del (p.Glu235fs) rs2152284932
NM_007363.5(NONO):c.1242del (p.Gly415fs) rs2148040741
NM_012179.4(FBXO7):c.1345_1347delinsTAA (p.Asp449Ter) rs2146009225
NM_012208.4(HARS2):c.137T>A (p.Leu46Gln) rs1562047621
NM_012208.4(HARS2):c.980G>A (p.Arg327Gln) rs778499309
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs) rs2151753260
NM_013275.6(ANKRD11):c.5974A>C (p.Lys1992Gln) rs763207005
NM_013275.6(ANKRD11):c.7544T>C (p.Leu2515Pro) rs2151703162
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014053.4(FLVCR1):c.1557_1561del (p.Asn519fs) rs748989557
NM_014208.3(DSPP):c.3565_3566insCAGCAGCGATA (p.Ser1189fs) rs2109998972
NM_014222.3(NDUFA8):c.403C>T (p.Arg135Ter) rs760549929
NM_014249.4(NR2E3):c.554del (p.Lys185fs) rs1595956455
NM_014249.4(NR2E3):c.626dup (p.Tyr209Ter) rs1595956595
NM_014255.7(CNPY2):c.46_50del (p.Gly16fs) rs1873865063
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014363.6(SACS):c.7576_7579del (p.Glu2526fs) rs2137599071
NM_014727.3(KMT2B):c.7470C>A (p.Phe2490Leu) rs2146479981
NM_014975.3(MAST1):c.1580C>A (p.Thr527Asn) rs2145907078
NM_015215.4(CAMTA1):c.4418G>A (p.Ser1473Asn) rs776553769
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu) rs150146590
NM_015629.3:c.(?_-1)_(*1_?)del
NM_015629.3:c.(?_-1)_(238+1_239-1)del
NM_015629.4(PRPF31):c.1190dup (p.His398fs) rs1600360338
NM_015629.4(PRPF31):c.1234del (p.Gln411_Val412insTer) rs1600360654
NM_015629.4(PRPF31):c.421-2A>G rs1600340117
NM_015629.4(PRPF31):c.666_668del (p.Ile223del) rs1600341902
NM_015629.4(PRPF31):c.673del (p.Ala225fs) rs1600341931
NM_015629.4(PRPF31):c.855+1G>T rs1057520752
NM_015629.4(PRPF31):c.961A>T (p.Lys321Ter) rs1600355373
NM_016035.5(COQ4):c.540del (p.Ile180fs) rs2131235872
NM_016219.5(MAN1B1):c.219+1G>A rs2130983856
NM_016525.5(UBAP1):c.1265A>G (p.Gln422Arg) rs1227081826
NM_016580.4(PCDH12):c.207dup (p.Gln70fs) rs2126931148
NM_017446.4(MRPL39):c.896G>T (p.Gly299Val) rs1227035820
NM_017825.3(ADPRS):c.564C>A (p.Tyr188Ter) rs2124055267
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter) rs2125096196
NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del
NM_019098.5(CNGB3):c.1700G>A (p.Gly567Glu) rs267602029
NM_019100.5(DMAP1):c.1024del (p.Glu342fs) rs750381568
NM_024408.4(NOTCH2):c.6919_6920del (p.Phe2307fs) rs1570654979
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024665.7(TBL1XR1):c.59-1G>A rs2108504144
NM_025000.4(DCAF17):c.1488_1489del (p.Arg496fs) rs778488574
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly) rs2102494691
NM_025150.5(TARS2):c.1678G>C (p.Asp560His) rs2102510285
NM_030665.4(RAI1):c.13C>T (p.Arg5Ter) rs2143001434
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs) rs2032172594
NM_030665.4(RAI1):c.5444_5448del (p.Pro1815fs) rs2143003540
NM_031407.7(HUWE1):c.9883G>A (p.Gly3295Ser) rs2147247961
NM_032119.4(ADGRV1):c.17195del (p.Pro5732fs) rs1581312596
NM_032119.4(ADGRV1):c.4379-1G>A rs1432643009
NM_032271.3(TRAF7):c.1798G>A (p.Gly600Ser) rs2141298527
NM_032581.4(HYCC1):c.832-2A>T rs766925936
NM_032888.4(COL27A1):c.4020del (p.Pro1342fs) rs2131616036
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033056.4(PCDH15):c.5847_5848del (p.His1949fs) rs781339303
NM_130839.5(UBE3A):c.1594G>T (p.Asp532Tyr) rs2152819923
NM_139119.3(YY1AP1):c.207del (p.Lys69fs) rs1388180864
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile) rs773516968
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.610A>C (p.Lys204Gln) rs1594866237
NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg) rs1578491064
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_170606.3(KMT2C):c.3619A>G (p.Lys1207Glu) rs2129145634
NM_174878.3(CLRN1):c.434-2A>T rs1576623563
NM_178012.5(TUBB2B):c.908G>A (p.Cys303Tyr) rs2113819019
NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu) rs1747645807
NM_198428.3(BBS9):c.115A>G (p.Lys39Glu) rs1584179629
NM_198503.5(KCNT2):c.1096A>G (p.Lys366Glu) rs2148529666
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln) rs1571523755
NM_201253.3(CRB1):c.1893T>G (p.Tyr631Ter) rs1571525390
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.3916_3921del (p.Cys1306_Val1307del) rs1571572235
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201548.5(CERKL):c.694G>A (p.Gly232Arg) rs78484040
NM_205768.3(ZBTB18):c.922G>T (p.Glu308Ter) rs763141634
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.12161G>T (p.Ser4054Ile) rs1571953381
NM_206933.4(USH2A):c.13274C>A (p.Thr4425Lys) rs201238640
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13948C>T (p.Gln4650Ter) rs1571945537
NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter) rs1571623023
NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser) rs1572060087
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala) rs750077857
NM_206933.4(USH2A):c.5546_5547del (p.Ser1849fs) rs1571941465
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.9370A>G (p.Arg3124Gly) rs1453306308

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