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: 365
Download table as spreadsheet
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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.