ClinVar Miner

Variants with conflicting interpretations "likely benign" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "uncertain significance" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 587
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HGVS dbSNP
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000082.4(ERCC8):c.839C>A rs61754098
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys) rs114610092
NM_000109.4(DMD):c.1789-3C>A rs181399181
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000137.3(FAH):c.296A>G (p.Asp99Gly) rs547847694
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682
NM_000182.5(HADHA):c.-1G>T rs72809666
NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys) rs200227737
NM_000231.2(SGCG):c.-6T>C rs141771521
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000253.3(MTTP):c.2673C>T (p.Ser891=) rs115222767
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408
NM_000276.4(OCRL):c.439+3A>G rs61752971
NM_000283.3(PDE6B):c.928-9_940dup rs539992414
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000381.4(MID1):c.1489C>T (p.Leu497=) rs138629923
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000392.5(ABCC2):c.842G>A (p.Ser281Asn) rs56131651
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000433.3(NCF2):c.563G>A (p.Arg188Lys) rs115365142
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423
NM_000441.2(SLC26A4):c.416-7T>C rs111033387
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874
NM_000492.3(CFTR):c.-812T>G rs181008242
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000528.4(MAN2B1):c.2267+3dup rs572289342
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del) rs559371263
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe) rs4987238
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) rs140768346
NM_000686.5(AGTR2):c.402del (p.Phe134fs) rs387906503
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_000941.3(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) rs182248363
NM_001031679.3(MSRB3):c.-118del rs574256598
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr) rs75426387
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001077365.2(POMT1):c.986+9A>G rs202095070
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=) rs148667984
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) rs139749569
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg) rs148372053
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751
NM_001130987.2(DYSF):c.3756+9G>T rs191746041
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001131023.1(PEX5):c.649G>C (p.Val217Leu) rs149102738
NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr) rs199784503
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_001142771.2(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818
NM_001167617.2(MLH1):c.1852G>A (p.Val618Met) rs35831931
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) rs200957146
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser) rs149495971
NM_001252024.2(TRPM1):c.3549G>C (p.Gln1183His) rs182549235
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del) rs59355923
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup) rs59355923
NM_001267550.1(TTN):c.83315A>T rs578191491
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793
NM_001267550.2(TTN):c.11254+2T>C rs199565715
NM_001267550.2(TTN):c.11311+1799G>C rs147314430
NM_001267550.2(TTN):c.11311+2573T>C rs72647897
NM_001267550.2(TTN):c.11311+3440C>T rs72647901
NM_001267550.2(TTN):c.11311+3769C>A rs140064945
NM_001267550.2(TTN):c.11311+4672C>T rs149748934
NM_001267550.2(TTN):c.11312-4319G>A rs72648913
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met) rs397517825
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=) rs192857526
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=) rs143845692
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598
NM_001267550.2(TTN):c.21404-4A>G rs72648965
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540
NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr) rs144639994
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr) rs397517599
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn) rs192962624
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) rs186681106
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=) rs186402008
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu) rs200406978
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr) rs182126530
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln) rs199788826
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227
NM_001267550.2(TTN):c.87707-4G>T rs201770959
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001267550.2(TTN):c.99102G>C (p.Trp33034Cys) rs397517778
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641
NM_001271208.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654
NM_001271208.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.2(NEB):c.22227C>G (p.Asp7409Glu) rs192402741
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493
NM_001277269.2(OTOG):c.[6110C>T] rs61736002
NM_001278074.1(COL5A1):c.3474+7C>T rs550497696
NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) rs199557987
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_001365068.1(ASTN2):c.2806+27471C>G rs117599771
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) rs202084411
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534
NM_001367624.1(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu) rs386789728
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu) rs138220431
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys) rs139875974
NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro) rs138190335
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756
NM_001845.6(COL4A1):c.1000-5T>G rs75711155
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=) rs200023632
NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met) rs150432347
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891
NM_001849.4(COL6A2):c.2795C>T rs117725825
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup) rs72555376
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del) rs72555376
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) rs35759430
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_002693.2(POLG):c.1743C>T (p.Asp581=) rs140743000
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2735-7C>G rs200372494
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002857.3(PEX19):c.16G>A (p.Glu6Lys) rs145845197
NM_002968.2(SALL1):c.2825C>A (p.Pro942His) rs751069468
NM_002968.2(SALL1):c.477_478insAGCGGC (p.Gly160_Gly161insSerGly) rs1555475415
NM_003165.4(STXBP1):c.1702+10C>T rs147607230
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003282.4(TNNI2):c.54G>C (p.Leu18=) rs181679318
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) rs141980901
NM_003383.5(VLDLR):c.-42_-40GGC[9] rs71329437
NM_003482.3(KMT2D):c.3813A>T (p.Leu1271=) rs201794205
NM_003494.3(DYSF):c.4577A>C rs76086153
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) rs146503597
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003816.3(ADAM9):c.280G>A (p.Val94Ile) rs146980702
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004006.2(DMD):c.1934A>G (p.Asp645Gly) rs147822019
NM_004006.2(DMD):c.3432+2036A>C rs182575709
NM_004006.2(DMD):c.5723A>T (p.Asp1908Val) rs145266970
NM_004006.2(DMD):c.7016A>G (p.His2339Arg) rs398124041
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe) rs148781346
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282
NM_004082.4(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481
NM_004260.3(RECQL4):c.1390+3G>A rs148912524
NM_004260.3(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.3(RECQL4):c.3609C>T (p.Leu1203=) rs201384843
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467
NM_004281.3(BAG3):c.1436C>T (p.Ala479Val) rs34656239
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala) rs749792302
NM_004369.3(COL6A3):c.1024G>A (p.Val342Met) rs111402193
NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396
NM_004369.3(COL6A3):c.3270C>T (p.Asp1090=) rs113781746
NM_004369.3(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900
NM_004369.3(COL6A3):c.4117G>A (p.Ala1373Thr) rs112181324
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004550.4(NDUFS2):c.959T>C (p.Val320Ala) rs144937332
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891
NM_004656.4(BAP1):c.1729+8T>C rs150945583
NM_004737.6(LARGE1):c.1599C>T (p.Ile533=) rs12627793
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553
NM_004817.4(TJP2):c.61-6A>T rs200415824
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371
NM_005045.4(RELN):c.77C>T (p.Ala26Val) rs144557847
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005249.5(FOXG1):c.*4C>T rs774917687
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr) rs138714806
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys) rs142335339
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055
NM_005603.6(ATP8B1):c.134A>C (p.Asn45Thr) rs146599962
NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006
NM_005603.6(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923
NM_006005.3(WFS1):c.114C>T (p.Ser38=) rs531593902
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) rs113342730
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) rs112633352
NM_006059.4(LAMC3):c.-2C>T rs137883250
NM_006371.4(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029
NM_006493.4(CLN5):c.-87C>T rs200353554
NM_006516.3(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402
NM_006579.3(EBP):c.650C>T (p.Thr217Met) rs150348311
NM_006790.2(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.2(MYOT):c.533G>A (p.Arg178His) rs150293853
NM_007126.5(VCP):c.2406T>C (p.Asp802=) rs145508640
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) rs80358282
NM_012224.3(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_012301.4(MAGI2):c.219C>T (p.Pro73=) rs148240352
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791
NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) rs117173425
NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln) rs200163818
NM_014008.5(CCDC22):c.962G>A (p.Arg321Gln) rs140735182
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met) rs767072861
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe) rs201109457
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659
NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys) rs34965084
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965
NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu) rs116450347
NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln) rs117204561
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.2835+8T>C rs202141372
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017890.4(VPS13B):c.7876G>A (p.Glu2626Lys) rs144350008
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018136.5(ASPM):c.3599-4A>G rs149303254
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=) rs150642468
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser) rs115892604
NM_019098.4(CNGB3):c.1439G>A (p.Arg480Gln) rs77277189
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe) rs142597675
NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691
NM_020956.2(PRX):c.*3578G>A rs148939995
NM_020956.2(PRX):c.*4152C>T rs142762689
NM_021120.4(DLG3):c.429C>T (p.Phe143=) rs144225009
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021939.3(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315
NM_022356.3(P3H1):c.1529A>G (p.Asn510Ser) rs149894086
NM_022356.3(P3H1):c.327C>T (p.Phe109=) rs370773974
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln) rs150814749
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502
NM_024582.4(FAT4):c.14660G>A (p.Arg4887Lys) rs35845544
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr) rs200266424
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) rs41311625
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu) rs74591375
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032682.6(FOXP1):c.1762G>A (p.Ala588Thr) rs202173892
NM_032682.6(FOXP1):c.44C>T (p.Ala15Val) rs532329866
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473
NM_057166.5(COL6A3):c.4147C>T (p.Arg1383Trp) rs146546544
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878
NM_144495.2(PQBP1):c.292+291_292+311del rs782547972
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_172244.3(SGCD):c.717C>G (p.Asp239Glu) rs180898690
NM_181741.4(ORC4):c.857C>T (p.Ala286Val) rs75002266
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr) rs148028681
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met) rs199996504
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) rs144206837
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp) rs201146062
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=) rs371271326
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=) rs148465219
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met) rs186848953
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824
NM_201384.3(PLEC):c.6300G>A (p.Ala2100=) rs188154081
NM_201384.3(PLEC):c.6438G>A (p.Ala2146=) rs374211586
NM_201384.3(PLEC):c.8509G>A (p.Glu2837Lys) rs199661077
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys) rs75857070
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666
NM_206933.3(USH2A):c.14642G>C (p.Ser4881Thr) rs200949691
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753
NM_213599.2(ANO5):c.259G>A (p.Val87Ile) rs34994927
NM_213599.2(ANO5):c.2698A>C (p.Met900Leu) rs148293985
NM_213599.2(ANO5):c.680G>C (p.Gly227Ala) rs140903276
Single allele

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