ClinVar Miner

List of variants reported by Genomics England Pilot Project, Genomics England

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ClinVar version:
Total variants: 564
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
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) rs11394094 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_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr) rs550949678 0.00102
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) rs139076647 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly) rs143507827 0.00018
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_001905.4(CTPS1):c.1692-1G>C rs145092287 0.00015
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) rs147145234 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser) rs149992595 0.00010
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln) rs751875578 0.00009
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr) rs200292484 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NC_000017.11:g.8002596T>C rs774980016 0.00004
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_002900.3(RBP3):c.509G>A (p.Arg170Gln) rs782671340 0.00004
NM_003114.5(SPAG1):c.1519dup (p.Ile507fs) rs763569711 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_005262.3(GFER):c.581G>A (p.Arg194His) rs121908192 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) rs201994921 0.00004
NM_024306.5(FA2H):c.620C>T (p.Thr207Met) rs372445274 0.00004
NM_033087.4(ALG2):c.176G>A (p.Cys59Tyr) rs757068626 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_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090 0.00003
NM_000350.3(ABCA4):c.1937+1G>A rs61752401 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_004006.3(DMD):c.4297G>C (p.Gly1433Arg) rs371601285 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu) rs201808007 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_015697.9(COQ2):c.115A>T (p.Thr39Ser) rs369705200 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter) rs1057518160 0.00002
NM_145200.5(CABP4):c.292C>T (p.Arg98Ter) rs777555935 0.00002
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter) rs531851447 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) rs370657735 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000187.4(HGD):c.157C>T (p.Arg53Trp) rs759435977 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr) rs61755803 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter) rs748396645 0.00001
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys) rs1290534109 0.00001
NM_001098.3(ACO2):c.927G>C (p.Lys309Asn) rs772325936 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001330691.3(CEP78):c.1206-2A>C rs778035330 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00001
NM_001369.3(DNAH5):c.3484C>T (p.Gln1162Ter) rs760081822 0.00001
NM_001369.3(DNAH5):c.9720+5G>A rs763440781 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002778.4(PSAP):c.698T>G (p.Leu233Arg) rs772826932 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter) rs779055639 0.00001
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro) rs1403125636 0.00001
NM_004183.4(BEST1):c.1066C>T (p.Arg356Ter) rs1295669283 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004318.4(ASPH):c.2127-2del rs1200332180 0.00001
NM_005208.5(CRYBA1):c.215+1G>A rs1264025914 0.00001
NM_005262.3(GFER):c.575A>G (p.Asp192Gly) rs1363034255 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) rs1215612827 0.00001
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter) rs1287727763 0.00001
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln) rs781431741 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_016180.5(SLC45A2):c.533_534dup (p.Gly179fs) rs757344228 0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014 0.00001
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter) rs758437925 0.00001
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys) rs387907040 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_025207.5(FLAD1):c.797del (p.Glu266fs) rs1657723514 0.00001
NM_130466.4(UBE3B):c.1852C>T (p.Arg618Ter) rs746058354 0.00001
NM_152564.5(VPS13B):c.4949+2T>C rs761273297 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_182961.4(SYNE1):c.12528+1G>A rs1012514808 0.00001
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter) rs1193193335 0.00001
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) rs776591659 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_206933.4(USH2A):c.12356T>C (p.Phe4119Ser) rs776587395 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NC_000006.12:g.35506278_35506281del rs2150925640
NC_000023.11:g.86047630G>A rs2147819369
NC_012920.1(MT-ATP6):m.8851T>C rs199476136
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ATP6):m.9176T>C rs199476135
NC_012920.1(MT-ATP6):m.9176T>G rs199476135
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-ND1):m.3460G>A rs199476118
NC_012920.1(MT-ND1):m.3946G>A rs199476123
NC_012920.1(MT-ND3):m.10191T>C rs267606890
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND6):m.14459G>A rs199476105
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000052.7(ATP7A):c.2917-4A>G rs2149104823
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter) rs72645366
NM_000088.4(COL1A1):c.1200+1del rs2144576696
NM_000088.4(COL1A1):c.3046-1G>T rs67965462
NM_000088.4(COL1A1):c.3207+1_3207+2del rs1064796200
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg) rs72645355
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.326G>T (p.Gly109Val) rs1114167416
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp) rs1554395833
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val) rs67525025
NM_000090.4(COL3A1):c.4323_4326del (p.Ile1441fs) rs2153504449
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000117.3(EMD):c.125del (p.Glu42fs) rs2148128139
NM_000140.5(FECH):c.181C>T (p.Gln61Ter) rs2122357230
NM_000156.6(GAMT):c.313_314insTG (p.Arg105fs) rs2144638078
NM_000165.5(GJA1):c.602C>A (p.Ser201Tyr) rs2114283819
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu) rs61750180
NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg) rs2151803661
NM_000180.4(GUCY2D):c.3043+5G>A rs751822337
NM_000194.3(HPRT1):c.539G>A (p.Gly180Glu) rs2124305307
NM_000199.5(SGSH):c.716A>G (p.Gln239Arg) rs1352066127
NM_000216.4(ANOS1):c.67_92dup (p.Ala32fs) rs2146919339
NM_000233.4(LHCGR):c.1573C>T (p.Gln525Ter) rs1680005340
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000257.4(MYH7):c.4123T>C (p.Tyr1375His) rs730880790
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000260.4(MYO7A):c.3886del (p.Arg1296fs) rs2135563245
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000273.3(GPR143):c.346T>G (p.Cys116Gly) rs62635030
NM_000273.3(GPR143):c.767+1G>A rs2146687459
NM_000283.4(PDE6B):c.1160C>T (p.Pro387Leu) rs1392709495
NM_000283.4(PDE6B):c.1927_1967del (p.Asn643fs) rs1296042817
NM_000283.4(PDE6B):c.853-1G>A rs2109193662
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln) rs2063162114
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000304.4(PMP22):c.341C>T (p.Ala114Val) rs1217342392
NM_000325.6(PITX2):c.347_378del (p.Tyr116fs) rs2110435639
NM_000330.4(RS1):c.287G>A (p.Trp96Ter) rs2147193970
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000350.3(ABCA4):c.2571del (p.Asp858fs) rs61752407
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.5646G>T (p.Met1882Ile) rs752160946
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.834del (p.Asp279fs) rs779743222
NM_000352.6(ABCC8):c.291-2A>G rs786204695
NM_000355.4(TCN2):c.172del (p.Leu58fs) rs2145536721
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000388.4(CASR):c.416T>C (p.Ile139Thr) rs1060502860
NM_000390.4(CHM):c.315-1536A>G rs1555955061
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000455.5(STK11):c.812del (p.Ser271fs) rs2145427067
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro) rs2147006592
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000533.5(PLP1):c.423_426del (p.Cys141fs) rs2147764593
NM_000535.7(PMS2):c.741_742insTGAAG (p.Ser248Ter) rs756653193
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) rs1578278438
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000548.5(TSC2):c.3523dup (p.Val1175fs) rs2151459858
NM_000554.6(CRX):c.522_523dup (p.Gln175fs) rs2123743198
NM_001004127.3(ALG11):c.2T>C (p.Met1Thr) rs2140807775
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del) rs1064794465
NM_001005242.3(PKP2):c.951del (p.His318fs) rs1555148048
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr) rs1269225724
NM_001009944.3(PKD1):c.6813dup (p.Arg2272fs) rs2151785975
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter) rs2131513223
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040716.2(PC):c.1154_1155del (p.Arg385fs) rs1482845179
NM_001042472.3(ABHD12):c.620-2A>G rs1555811525
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.4578-2A>G rs1555618996
NM_001042492.3(NF1):c.4597del (p.Arg1533fs) rs2151466235
NM_001042492.3(NF1):c.7457+2T>G rs2151574701
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001077620.3(PRCD):c.143+1G>A rs2074979676
NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg) rs1735303754
NM_001098.3(ACO2):c.1687C>G (p.Gln563Glu) rs2146140052
NM_001098.3(ACO2):c.865G>C (p.Glu289Gln) rs2146127288
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001111.5(ADAR):c.2763-2A>G rs2101579172
NM_001111.5(ADAR):c.3202+1G>A rs2101565765
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs) rs2101563488
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter) rs2101642015
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) rs1057518011
NM_001123385.2(BCOR):c.4551del (p.Glu1518fs) rs2146922561
NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter) rs200219778
NM_001126108.2(SLC12A3):c.505+5G>A rs751112698
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs) rs2144956632
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) rs1555738369
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu) rs2144936093
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val) rs796053327
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu) rs1233961202
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001142800.2(EYS):c.6545del (p.Asn2182fs) rs1346842287
NM_001145026.2(PTPRQ):c.6024+2T>C rs2121223982
NM_001159699.2(FHL1):c.708_736+22del rs2148378774
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) rs1057517686
NM_001174089.2(SLC4A11):c.1658C>A (p.Ser553Ter) rs1311747266
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer) rs2147541733
NM_001195553.2(DCX):c.280A>G (p.Asn94Asp) rs797045512
NM_001197104.2(KMT2A):c.2690C>G (p.Ser897Ter) rs2134271140
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs) rs778390089
NM_001252024.2(TRPM1):c.4842del (p.Lys1615fs) rs2141098146
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256789.3(CACNA1F):c.1877+1G>T rs2147916480
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.51804_51805insCCAGTGCTATG (p.Ala17269fs) rs2154198510
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs) rs1247353236
NM_001267550.2(TTN):c.7433G>A (p.Trp2478Ter) rs1561254509
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001278716.2(FBXL4):c.1750del (p.Cys584fs) rs2128374874
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001289808.2(CRYAB):c.525del (p.Lys175fs) rs2137378244
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001323289.2(CDKL5):c.1628dup (p.Ser543fs) rs2147160942
NM_001348800.3(ZBTB20):c.918del (p.Glu307fs) rs2108207488
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) rs1555369657
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser) rs1064793796
NM_001367823.1(ARHGEF18):c.2181+5G>A rs1064793002
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs) rs1436141222
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370298.3(FGD4):c.1097_1101del (p.Asp366fs) rs2136608035
NM_001370298.3(FGD4):c.2159G>A (p.Arg720Gln) rs1950123802
NM_001370466.1(NOD2):c.1390A>C (p.Met464Leu) rs2150810705
NM_001371279.1(REEP1):c.67T>C (p.Ser23Pro) rs2104394897
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu) rs869312668
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr) rs1555409418
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001378477.3(NYX):c.1293dup (p.Leu432fs) rs2147026677
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) rs397514677
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001849.4(COL6A2):c.-27-3C>G rs1288520983
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.2755-2A>G rs2101653580
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001953.5(TYMP):c.1088del (p.Gly363fs) rs1060499535
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.1739del (p.Gly580fs) rs2101651357
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln) rs587777020
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002335.4(LRP5):c.2254C>T (p.Arg752Trp) rs121908674
NM_002335.4(LRP5):c.3914G>A (p.Cys1305Tyr) rs2153178673
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys) rs2122988484
NM_002739.5(PRKCG):c.381G>T (p.Gln127His) rs973767996
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro) rs2122988688
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp) rs1556300621
NM_002778.4(PSAP):c.1006-8_1021del rs760391023
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002890.3(RASA1):c.2771del (p.Pro924fs) rs2112513256
NM_003051.4(SLC16A1):c.747_750del (p.Asn250fs) rs606231311
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.106_110del (p.Pro37fs) rs2152392902
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) rs368541637
NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr) rs201836697
NM_003361.4(UMOD):c.278T>C (p.Val93Ala) rs2141676565
NM_003361.4(UMOD):c.280T>G (p.Cys94Gly) rs2141676543
NM_003361.4(UMOD):c.281G>C (p.Cys94Ser) rs2141676533
NM_003361.4(UMOD):c.283C>T (p.Pro95Ser) rs2141676523
NM_003361.4(UMOD):c.286G>T (p.Glu96Ter) rs1357689052
NM_003361.4(UMOD):c.287_289del (p.Glu96del) rs2141676487
NM_003482.4(KMT2D):c.12946G>T (p.Glu4316Ter) rs2120423939
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) rs121908681
NM_003816.3(ADAM9):c.1588_1591+10del rs2129438824
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter) rs781508063
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004373.4(COX6A1):c.247-7_247-3del rs587777783
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746
NM_004415.4(DSP):c.2611_2614del (p.Asp871fs) rs1265117085
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.818dup (p.Asn274fs) rs1758828554
NM_004431.5(EPHA2):c.2826-9G>A rs886041412
NM_004525.3(LRP2):c.7840A>T (p.Arg2614Ter) rs2105329431
NM_004525.3(LRP2):c.8095C>T (p.Arg2699Ter) rs1236195196
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly) rs386833902
NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser) rs876657841
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys) rs367916692
NM_004820.5(CYP7B1):c.650dup (p.Leu217fs) rs1298132281
NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter) rs1882578572
NM_004984.4(KIF5A):c.687T>A (p.Tyr229Ter) rs2140161617
NM_005208.5(CRYBA1):c.626C>G (p.Ser209Trp) rs2153009764
NM_005276.4(GPD1):c.219+1_219+3del rs2137920303
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg) rs35428353
NM_005276.4(GPD1):c.686G>C (p.Arg229Pro) rs199673455
NM_005609.4(PYGM):c.110A>G (p.His37Arg) rs1170598133
NM_005859.5(PURA):c.15del (p.Asp5fs) rs2126748515
NM_005861.4(STUB1):c.779A>C (p.His260Pro) rs2151506687
NM_005869.4(CWC27):c.1002dup (p.Val335fs) rs752159903
NM_005982.4(SIX1):c.517A>C (p.Lys173Gln) rs2140240995
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.2309del (p.Pro770fs) rs878853400
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006306.4(SMC1A):c.3181C>T (p.Gln1061Ter) rs2146582657
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) rs1570592604
NM_006516.4(SLC2A1):c.851T>C (p.Leu284Pro) rs2124448826
NM_006612.6(KIF1C):c.2478del (p.Ala828fs) rs1131690773
NM_006734.4(HIVEP2):c.2853_2854del (p.Glu953fs) rs2114653975
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006915.3(RP2):c.768+1G>A rs1924915809
NM_006940.6(SOX5):c.352C>T (p.Arg118Ter) rs2136047948
NM_006941.4(SOX10):c.267del (p.Met90fs) rs2145777226
NM_007055.4(POLR3A):c.2554del (p.Met852fs) rs764313785
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007289.4(MME):c.1400dup (p.Arg468fs) rs751149568
NM_007289.4(MME):c.2050C>T (p.Gln684Ter) rs200678412
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_012144.4(DNAI1):c.565_566del (p.Leu188_Thr189insTer) rs1405276816
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.3127del (p.Leu1043fs) rs2151756343
NM_013275.6(ANKRD11):c.980_993del (p.Leu327fs) rs2151766539
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del) rs2137561854
NM_014714.4(IFT140):c.1422_1423insAA (p.Arg475fs) rs2141800223
NM_014714.4(IFT140):c.2628C>A (p.Asn876Lys) rs2040683256
NM_014727.3(KMT2B):c.7348C>T (p.Arg2450Ter) rs1568384928
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014844.5(TECPR2):c.2753-1G>A rs1276623521
NM_014844.5(TECPR2):c.3789+1G>C rs2139771776
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1245+6T>G rs1553317050
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg) rs863224919
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015295.3(SMCHD1):c.3323T>C (p.Leu1108Pro) rs2143530610
NM_015335.5(MED13L):c.4792C>T (p.Gln1598Ter) rs2137274539
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter) rs774809466
NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter) rs2071377438
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter) rs869312187
NM_015629.4(PRPF31):c.1374+569C>G rs2146453060
NM_016120.4(RLIM):c.992G>A (p.Gly331Glu) rs2147372360
NM_016169.4(SUFU):c.1391G>A (p.Trp464Ter) rs2135959437
NM_016525.5(UBAP1):c.535G>T (p.Glu179Ter) rs1833955862
NM_018136.5(ASPM):c.8365del (p.Ser2789fs) rs1353421249
NM_018136.5(ASPM):c.8794del (p.Ile2932fs) rs1160186494
NM_019042.5(PUS7):c.1385_1386del (p.Ser462fs) rs2133076941
NM_019098.5(CNGB3):c.190del (p.Glu64fs) rs1554619292
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) rs1554041295
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021222.3(PRUNE1):c.3G>A (p.Met1Ile) rs1232331611
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021728.4(OTX2):c.634_640del (p.Tyr212fs) rs2139528313
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) rs28937887
NM_021831.6(AGBL5):c.323C>G (p.Pro108Arg) rs1271339736
NM_021954.4(GJA3):c.148T>C (p.Ser50Pro) rs2141138396
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) rs864309691
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys) rs2141138365
NM_022124.6(CDH23):c.1986+3A>T rs2132682822
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022489.4(INF2):c.485T>C (p.Leu162Pro) rs2140647298
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022787.4(NMNAT1):c.364del (p.Arg122fs) rs1413885352
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg) rs143697995
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter) rs2150533516
NM_024306.5(FA2H):c.782dup (p.His261fs) rs2144606157
NM_024306.5(FA2H):c.798C>G (p.Asp266Glu) rs771402018
NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu) rs2127401458
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys) rs878854401
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) rs398122983
NM_025137.4(SPG11):c.3729del (p.Ser1244fs) rs2140978326
NM_025137.4(SPG11):c.5148dup (p.His1717fs) rs1422477670
NM_025137.4(SPG11):c.6754+2_6754+3dup rs759090170
NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs) rs1555744175
NM_030962.4(SBF2):c.2215G>A (p.Glu739Lys) rs2134001289
NM_031229.4(RBCK1):c.1522_1526del (p.Asn508fs) rs2122349615
NM_031229.4(RBCK1):c.799C>T (p.Gln267Ter) rs2122268166
NM_032415.7(CARD11):c.88C>G (p.Arg30Gly) rs145474800
NM_032861.4(SERAC1):c.1850_1851insA (p.Pro618fs) rs2128409409
NM_033087.4(ALG2):c.89_114del (p.Glu30fs) rs775204090
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) rs746356243
NM_033305.3(VPS13A):c.672_676del (p.Tyr224_Ser226delinsTer) rs2131153683
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.4315+2T>A rs2147989449
NM_080680.3(COL11A2):c.5152C>G (p.Leu1718Val) rs1413052565
NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter) rs587777635
NM_130837.3(OPA1):c.*4_*5+2del rs754411271
NM_130837.3(OPA1):c.1728_1734del (p.Glu576fs) rs2109058985
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.3G>A (p.Met1Ile) rs1724946838
NM_130837.3(OPA1):c.610+360G>A rs1553872542
NM_133497.4(KCNV2):c.1199del (p.Phe400fs) rs768486552
NM_133497.4(KCNV2):c.417C>A (p.Cys139Ter) rs748280472
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs) rs2127551949
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_144773.4(PROKR2):c.1019C>G (p.Thr340Ser) rs2122203627
NM_144773.4(PROKR2):c.332T>G (p.Met111Arg) rs914930539
NM_145068.4(TRPV3):c.1703G>T (p.Gly568Val) rs1057517884
NM_145200.5(CABP4):c.154C>T (p.Arg52Ter) rs745382789
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152419.3(HGSNAT):c.1708del (p.Thr570fs) rs1804782152
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu) rs587777782
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter) rs138032057
NM_182961.4(SYNE1):c.67+1G>A rs1213042460
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter) rs2102664776
NM_206933.4(USH2A):c.163C>T (p.Gln55Ter) rs2102788946
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.4(USH2A):c.6486-1G>A rs2102482051
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_212552.3(BOLA3):c.220_222del (p.Glu74del) rs1209052568

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