ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen: Collection method of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 294
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter) rs555126484 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter) rs199636364 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter) rs560339163 0.00005
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg) rs567130416 0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_018122.5(DARS2):c.536G>A (p.Arg179His) rs121918210 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6386+2C>G rs61753043 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000404.4(GLB1):c.699del (p.Gln234fs) rs1452318343 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter) rs754522209 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) rs1347618037 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024989.4(PGAP1):c.691C>T (p.Arg231Ter) rs1364192556 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000111.3(SLC26A3):c.1312-1G>T rs386833449
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) rs780609120
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000266.4(NDP):c.112C>T (p.Arg38Cys) rs758550101
NM_000273.3(GPR143):c.232G>A (p.Asp78Asn) rs62635024
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.4(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001029896.2(WDR45):c.766_794del (p.Asp257fs) rs1569523457
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001172509.2(SATB2):c.1756C>T (p.Gln586Ter) rs1559136245
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001348716.2(KDM6B):c.4431G>A (p.Trp1477Ter) rs2151379742
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378477.3(NYX):c.632A>G (p.Asn211Ser) rs62637029
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002294.3(LAMP2):c.929-2A>G rs1556092556
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) rs1554352952
NM_003919.3(SGCE):c.835_839del (p.Thr279fs) rs863223283
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004183.4(BEST1):c.665G>T (p.Gly222Val) rs281865241
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp) rs748551786
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_005859.5(PURA):c.563T>C (p.Ile188Thr) rs793888527
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_005984.5(SLC25A1):c.520G>T (p.Glu174Ter) rs139862803
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs) rs80357980
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014168.4(METTL5):c.571_572del (p.Lys191fs) rs1573965358
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs) rs1190463308
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_021120.4(DLG3):c.2035C>T (p.Arg679Ter) rs1602991098
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys) rs869312849
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014

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