ClinVar Miner

List of variants reported as likely pathogenic by Broad Institute Rare Disease Group, Broad Institute

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 316
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HGVS dbSNP
GRCh37/hg19 7q22.1-22.3(chr7:103354482-105407628)
GRCh37/hg19 7q22.1-22.3(chr7:103679146-105547471)
GRCh37/hg19 7q22.3(chr7:104678742-104730547)
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000070.3(CAPN3):c.1030-1G>A rs1555421263
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter) rs1595844413
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter) rs1595847257
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000109.4(DMD):c.3408+2036A>G rs182575709
NM_000147.4(FUCA1):c.151_160del (p.Ala51fs) rs1570692560
NM_000152.5(GAA):c.-32-2A>G
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg) rs752002666
NM_000152.5(GAA):c.1130del (p.Gly377fs) rs754134578
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1195-2A>G
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000152.5(GAA):c.1327-2A>G
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437G>A (p.Lys479=) rs796051877
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1551+1G>T rs770780848
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala)
NM_000152.5(GAA):c.1836C>G (p.His612Gln)
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)
NM_000152.5(GAA):c.1888+1G>A
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.5(GAA):c.2041-1G>A
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.2647-7G>A rs192679574
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.671G>C (p.Arg224Pro)
NM_000152.5(GAA):c.692+5G>T rs763027848
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000157.4(GBA):c.1052G>C (p.Trp351Ser) rs1553217294
NM_000157.4(GBA):c.1090G>A (p.Gly364Arg) rs121908305
NM_000157.4(GBA):c.1102C>T (p.Arg368Cys) rs374306700
NM_000157.4(GBA):c.1208G>C (p.Ser403Thr) rs121908307
NM_000157.4(GBA):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA):c.1296G>A (p.Trp432Ter) rs1484043383
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.4(GBA):c.681T>G (p.Asn227Lys) rs381418
NM_000157.4(GBA):c.896T>C (p.Ile299Thr) rs794727908
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.316C>T (p.Gln106Ter)
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000169.2(GLA):c.1087C>T (p.Arg363Cys) rs797044776
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.299+1G>T rs398123259
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000231.3(SGCG):c.505+2T>C rs1593216248
NM_000256.3(MYBPC3):c.3414dup (p.Val1139fs) rs863225114
NM_000256.3(MYBPC3):c.906-36G>A rs864622197
NM_000257.4(MYH7):c.5655+1G>C
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs)
NM_000328.3(RPGR):c.1905+919del rs1601920131
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000384.3(APOB):c.10238del (p.Thr3413fs) rs756209187
NM_000384.3(APOB):c.409G>T (p.Glu137Ter) rs766243954
NM_000384.3(APOB):c.631C>T (p.Gln211Ter) rs143301836
NM_000426.3(LAMA2):c.3412-2A>C rs1562449164
NM_000430.4(PAFAH1B1):c.671+5G>A rs587784280
NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_000539.3(RHO):c.408C>A (p.Tyr136Ter) rs200248198
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.2(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
NM_000540.2(RYR1):c.3301G>A (p.Val1101Met) rs145088074
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) rs120074123
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1341-1G>T rs1057516854
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804
NM_000545.6(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter)
NM_000933.3(PLCB4):c.1888G>A (p.Asp630Asn) rs1568763104
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001100.4(ACTA1):c.581_589del (p.Ile194_Glu197delinsLys)
NM_001103.3(ACTN2):c.2194_2226del (p.Ala732_Ile742del) rs1572148914
NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys) rs374055486
NM_001127392.3(MYRF):c.1786C>T (p.Gln596Ter)
NM_001128431.4(SLC39A14):c.751-9C>G rs1039778197
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs) rs753711667
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer) rs1574264671
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) rs1558613592
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.4221+5del rs1574341049
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs) rs1572994572
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter) rs1573009747
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001142301.1(TMEM67):c.1332+5G>A rs1554555063
NM_001142604.2(PPT1):c.125-2974T>G rs1557714302
NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly) rs1560841701
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) rs121918334
NM_001195553.2(DCX):c.665C>T (p.Thr222Ile) rs1603423268
NM_001199198.3(TBC1D23):c.1687+2T>A rs1553731605
NM_001199563.2(BVES):c.262C>T (p.Arg88Ter) rs796206315
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) rs1485132228
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001271208.2(NEB):c.12018+1G>A rs762278237
NM_001271208.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743
NM_001271208.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala) rs1591299252
NM_001278512.2(AP3B2):c.674_675del (p.Leu224_Cys225insTer) rs1481189891
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) rs760433806
NM_001368882.1(COL13A1):c.513del (p.Gly172fs)
NM_001371596.2(MFSD8):c.627_643del (p.Met209fs) rs1578889355
NM_001453.3(FOXC1):c.666_681del (p.Ile223fs) rs1057519479
NM_001673.5(ASNS):c.1649G>A (p.Arg550His) rs552452349
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn) rs1599017933
NM_001807.5(CEL):c.1776del (p.Val593fs) rs193922638
NM_001848.2(COL6A1):c.904-39A>G rs1569518138
NM_002080.4(GOT2):c.1097G>T (p.Gly366Val) rs1597696047
NM_002080.4(GOT2):c.784C>G (p.Arg262Gly) rs752927520
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter) rs1564349087
NM_003383.5(VLDLR):c.1962+2T>C rs1563764078
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter) rs778851652
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) rs1382083552
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_004369.3(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu) rs148890852
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595
NM_005219.5(DIAPH1):c.77dup (p.Pro27fs) rs1596421912
NM_005321.3(H1-4):c.408dup (p.Lys137fs) rs1581429395
NM_005461.5(MAFB):c.197C>T (p.Ser66Phe) rs1600429244
NM_005677.4(COLQ):c.444G>A (p.Trp148Ter) rs1369980189
NM_005876.5(SPEG):c.2183del (p.Leu728fs) rs1575065895
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) rs747681609
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg) rs1557612048
NM_006295.3(VARS1):c.3355C>T (p.Arg1119Cys) rs149378938
NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe) rs1554716504
NM_006516.3(SLC2A1):c.621_629del (p.Glu209_Pro211del) rs1557646075
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) rs1567941252
NM_007347.5(AP4E1):c.1317-2A>C rs1567230528
NM_013382.5(POMT2):c.1261C>T rs727502855
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val) rs1470798497
NM_014365.3(HSPB8):c.562del (p.Gln188fs)
NM_014845.6(FIG4):c.1475G>C (p.Arg492Pro)
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) rs990536521
NM_015239.2(AGTPBP1):c.2242C>T (p.Gln748Ter) rs1564046794
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015474.3(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027
NM_015869.4(PPARG):c.581G>A (p.Arg194Gln) rs148195788
NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs) rs1589475328
NM_016360.4(TACO1):c.472dup (p.His158fs) rs587776513
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) rs1593576872
NM_016592.4(GNAS):c.*206A>C rs1569015549
NM_017519.2(ARID1B):c.6434del (p.Asn2145fs) rs1562354784
NM_017755.6(NSUN2):c.839dup (p.Asn280fs) rs1579370234
NM_017946.4(FKBP14):c.207_208del (p.His69fs) rs1583734485
NM_018116.4(MSTO1):c.706G>C (p.Asp236His)
NM_018136.5(ASPM):c.688del (p.Glu230fs) rs1557966012
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs) rs1589611043
NM_018669.6(WDR4):c.454-2A>C rs779449710
NM_018684.4(ZC4H2):c.535_538dup (p.Arg180fs)
NM_020366.3(RPGRIP1):c.1611+27G>A rs1594203796
NM_020366.3(RPGRIP1):c.2367+23del rs781728563
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) rs1574786170
NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) rs1555507479
NM_021224.6(ZNF462):c.6631del (p.Arg2211fs)
NM_021729.5(VPS11):c.2536T>G (p.Cys846Gly) rs34757931
NM_021942.6(TRAPPC11):c.3379_3380insT (p.Asp1127fs)
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.8696G>A (p.Trp2899Ter) rs1482303814
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) rs886041058
NM_024496.4(IRF2BPL):c.240_243del (p.Val81fs)
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter) rs1595817021
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585
NM_032504.1(UNC80):c.8058+2T>G rs1575179679
NM_032581.4(FAM126A):c.100_101del (p.Lys34fs) rs1562502139
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_033026.6(PCLO):c.2532dup (p.Gln845fs) rs1584071201
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly) rs200088200
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.3304del (p.Asp1102fs) rs1569504068
NM_052867.4(NALCN):c.2671del (p.Val891fs) rs1594211911
NM_052988.5(CDK10):c.550_556del (p.Leu184fs) rs1597864006
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_139058.3(ARX):c.84C>A (p.Cys28Ter) rs932485786
NM_152384.3(BBS5):c.386+1G>T rs1559122277
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152906.7(TANGO2):c.380+1G>A rs1602255030
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) rs1562374476
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) rs1553261891
NM_175914.4(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_181789.4(GLDN):c.59T>C (p.Leu20Pro) rs1595795307
NM_182931.3(KMT2E):c.1130+2T>C rs1554394210
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.2261del (p.Leu753_Ser754insTer) rs1584802161
NM_182931.3(KMT2E):c.2452C>T (p.Arg818Ter) rs1584802744
NM_182931.3(KMT2E):c.2602_2605del (p.Thr868fs) rs1584803713
NM_182931.3(KMT2E):c.2620C>T (p.Arg874Ter) rs1584803745
NM_182931.3(KMT2E):c.2720A>T (p.Asp907Val) rs1584803942
NM_182931.3(KMT2E):c.2936del (p.Leu979fs) rs1584805072
NM_182931.3(KMT2E):c.3070C>T (p.Gln1024Ter) rs1562931936
NM_182931.3(KMT2E):c.3494_3495del (p.Arg1165fs) rs1584807827
NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter) rs186916831
NM_182931.3(KMT2E):c.3672_3673del (p.Tyr1224_Asn1225delinsTer) rs1584808269
NM_182931.3(KMT2E):c.4397_4398insCACAGCATGGTTATCTTTC (p.Pro1467fs) rs1584817521
NM_182931.3(KMT2E):c.4872del (p.Ala1624_Val1625insTer) rs1584819461
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter) rs1403101337
NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg) rs1571897130
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs) rs62636270
NM_206933.3(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978
NM_213599.2(ANO5):c.649-2A>G rs773736505
NM_213599.3(ANO5):c.1630+2T>G rs1590300702
Single allele

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