ClinVar Miner

List of variants reported as pathogenic by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 845
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819 0.00032
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_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) rs137852672 0.00022
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg) rs886054247 0.00006
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter) rs201079485 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_006343.3(MERTK):c.1296+1G>A rs774577413 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) rs730882150 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_152906.7(TANGO2):c.262C>T (p.Arg88Ter) rs140115503 0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) rs199801224 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter) rs779334655 0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_033100.4(CDHR1):c.295del (p.Glu99fs) rs867166472 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) rs758447515 0.00003
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp) rs439898 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000440.3(PDE6A):c.998+1G>A rs748946491 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001849.4(COL6A2):c.1461del (p.Ser488fs) rs398123645 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002887.4(RARS1):c.5A>G (p.Asp2Gly) rs672601372 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_018082.6(POLR3B):c.1018C>T (p.Arg340Ter) rs148879912 0.00003
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201548.5(CERKL):c.598A>T (p.Lys200Ter) rs398122963 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131 0.00002
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.4308-2A>G rs886041391 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_001205254.2(OCLN):c.1037+1G>A rs748442113 0.00002
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_006269.2(RP1):c.5962dup (p.Ile1988fs) rs769512989 0.00002
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) rs377215510 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser) rs781565158 0.00002
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) rs760752847 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NC_000022.10:g.38522454delG rs587784329 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395 0.00001
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) rs749529161 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000156.6(GAMT):c.145del (p.Tyr49fs) rs1384688313 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) rs80356772 0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys) rs747506979 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) rs398123532 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) rs137852894 0.00001
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) rs1185127836 0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) rs886077189 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.158+1G>A rs1264013707 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter) rs772057239 0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 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_000352.6(ABCC8):c.1176+2T>C rs750586210 0.00001
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263 0.00001
NM_000352.6(ABCC8):c.1630+1G>T rs773306994 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter) rs1484689392 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.3868-1G>A rs766431403 0.00001
NM_000352.6(ABCC8):c.3988+2T>C rs745349258 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000539.3(RHO):c.936+1G>T rs776014770 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_001029883.3(PCARE):c.958del (p.Arg320fs) rs1558490060 0.00001
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter) rs151017794 0.00001
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter) rs1177052380 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001378.3(DYNC1I2):c.740A>G (p.Tyr247Cys) rs752940799 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001395891.1(CLASP1):c.196-571C>T rs765906028 0.00001
NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter) rs398122382 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
NM_005529.7(HSPG2):c.8316+1G>A rs927473035 0.00001
NM_005677.4(COLQ):c.219+1G>C rs149020371 0.00001
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter) rs119489105 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter) rs755978559 0.00001
NM_007055.4(POLR3A):c.601del (p.Ile201fs) rs777280350 0.00001
NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter) rs546487084 0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_013328.4(PYCR2):c.796C>T (p.Arg266Ter) rs886037931 0.00001
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter) rs74315343 0.00001
NM_016580.4(PCDH12):c.451C>T (p.Arg151Ter) rs1175979418 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210 0.00001
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter) rs312262728 0.00001
NM_033453.4(ITPA):c.264-1G>A rs781254071 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_201548.5(CERKL):c.780del (p.Pro261fs) rs398122964 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)
GRCh38/hg38 10q23.33(chr10:94131004-94133482)x0
GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1
GRCh38/hg38 11q22.3(chr11:108358364-108376364)x0
GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1
GRCh38/hg38 14q12(chr14:28766690-29666306)x1
GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1
GRCh38/hg38 15q11.2(chr15:25354042-25357067)x1
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1
GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1
GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1
GRCh38/hg38 16p13.3(chr16:1515602-1521308)x3
GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0
GRCh38/hg38 17p12(chr17:16018139-16028011)x0
GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0
GRCh38/hg38 17p13.1(chr17:7454200-7454618)x0
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3
GRCh38/hg38 17q11.2(chr17:29461486-29495582)x1
GRCh38/hg38 17q12(chr17:36486532-37745203)x1
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1
GRCh38/hg38 19q13.12(chr19:35811865-35846292)x0
GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1
GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1
GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1
GRCh38/hg38 19q13.42(chr19:54121739-54129468)x1
GRCh38/hg38 19q13.42(chr19:54121739-54131817)x1
GRCh38/hg38 19q13.42(chr19:54152129-54161358)x1
GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1
GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1
GRCh38/hg38 1q21.3(chr1:151017715-151018767)x0
GRCh38/hg38 1q31.3(chr1:197435257-197441674)x0
GRCh38/hg38 1q42.11-42.12(chr1:224304638-224434886)x1
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1
GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1
GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1
GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1
GRCh38/hg38 1q44(chr1:244051186-244055631)x1
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3
GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1
GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1
GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1
GRCh38/hg38 2p13.2(chr2:71503117-71517137)x0
GRCh38/hg38 2q13(chr2:110123182-110205164)x0
GRCh38/hg38 2q13(chr2:111940205-112029659)x0
GRCh38/hg38 2q13(chr2:111940205-112055854)x1
GRCh38/hg38 2q13(chr2:111993999-111994721)x1
GRCh38/hg38 2q21.1(chr2:130099219-130374931)x1
GRCh38/hg38 2q31.1(chr2:171833866-171844606)x0
GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1
GRCh38/hg38 2q35(chr2:219420345-219431647)x1
GRCh38/hg38 3p24.2(chr3:25699606-25738988)x0
GRCh38/hg38 3p25.1(chr3:15488109-15489735)x0
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
GRCh38/hg38 4q24(chr4:106170998-106171368)x0
GRCh38/hg38 4q28.2(chr4:127949707-127984521)x0
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1
GRCh38/hg38 5q13.3(chr5:74695284-74702264)x0
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1
GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1
GRCh38/hg38 6q12(chr6:64902016-64946012)x1
GRCh38/hg38 6q12(chr6:64997485-65057825)x0
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1
GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1
GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3
GRCh38/hg38 7q35(chr7:147043810-147167670)x0
GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1
GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3
GRCh38/hg38 9q31.1(chr9:101426458-101431155)x0
GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1
GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0
GRCh38/hg38 Xp11.4(chrX:38297187-38299239)x0
GRCh38/hg38 Xp11.4(chrX:38301150-38301469)x0
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
GRCh38/hg38 Xp21.1(chrX:31601428-31727780)x0
GRCh38/hg38 Xp21.1(chrX:31782226-32088001)x0
GRCh38/hg38 Xp21.1(chrX:32216792-33041819)x0
GRCh38/hg38 Xp21.1(chrX:32536377-32771300)x0
GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3
GRCh38/hg38 Xp22.2(chrX:11766227-11770962)x0
GRCh38/hg38 Xq23(chrX:111250820-111333251)x1
GRCh38/hg38 Xq24(chrX:119582581-119589158)x0
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter) rs104894549
NM_000059.4(BRCA2):c.1138del (p.Ser380fs) rs80359264
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) rs781013226
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter) rs1595828703
NM_000070.3(CAPN3):c.1333G>T (p.Gly445Ter)
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.483del (p.Ile162fs) rs863224963
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter) rs1478500490
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter) rs112517802
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2432del (p.Leu811fs) rs766560578
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.692+1G>A rs773281453
NM_000152.5(GAA):c.692+1G>C rs773281453
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter) rs556829801
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000156.6(GAMT):c.491dup (p.Val165fs) rs749390953
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter) rs200444143
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu) rs77829017
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) rs398123530
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT rs869320698
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000162.5(GCK):c.45+1G>T rs781260712
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) rs751279776
NM_000163.5(GHR):c.266+1G>A rs1009412984
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter) rs748888649
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter) rs748939090
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000231.3(SGCG):c.505+2T>C rs1593216248
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) rs145605739
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.5898+1G>A rs61750638
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000352.6(ABCC8):c.1138del (p.Ala380fs)
NM_000352.6(ABCC8):c.148+1G>A
NM_000352.6(ABCC8):c.1630+1G>A
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.2113C>T (p.Arg705Ter) rs751848086
NM_000352.6(ABCC8):c.2117-2A>T rs1476853180
NM_000352.6(ABCC8):c.2151C>A (p.Cys717Ter)
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.2921-1G>A rs772682942
NM_000352.6(ABCC8):c.2980G>T (p.Glu994Ter)
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter) rs755259997
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.3163-1G>A
NM_000352.6(ABCC8):c.3400-1G>A rs576684889
NM_000352.6(ABCC8):c.3828del (p.Ala1277fs)
NM_000352.6(ABCC8):c.4114C>T (p.Gln1372Ter)
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.4453C>T (p.Gln1485Ter)
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.6(ABCC8):c.55C>T (p.Gln19Ter)
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter) rs922640025
NM_000426.4(LAMA2):c.8988+1G>T
NM_000430.4(PAFAH1B1):c.1002+1G>A rs113994203
NM_000458.4(HNF1B):c.1258dup (p.His420fs) rs1598809697
NM_000458.4(HNF1B):c.344+2_344+5del
NM_000466.3(PEX1):c.1099del (p.Gln367fs) rs1403870448
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) rs120074125
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.193del (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.564del (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter) rs120074122
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) rs120074120
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) rs776793516
NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter) rs1877175078
NM_000545.8(HNF1A):c.1502-6G>A rs1458430820
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) rs753998395
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000546.6(TP53):c.1083del (p.Ser362fs) rs1555524354
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_001002295.2(GATA3):c.708dup (p.Ser237fs) rs771019738
NM_001022.4(RPS19):c.316del (p.Ala106fs)
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.3+1G>T
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter) rs1397537890
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001037333.3(CYFIP2):c.1917C>G (p.Ile639Met) rs369858004
NM_001039591.3(USP9X):c.323-1G>A
NM_001039591.3(USP9X):c.6547del (p.Phe2182_Val2183insTer)
NM_001040142.2(SCN2A):c.1177-2A>C
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) rs746163041
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs) rs587777819
NM_001083962.2(TCF4):c.1144_1145insC (p.Leu382fs)
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.840_841insGAGAAAG (p.Ser281fs)
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001130987.2(DYSF):c.1258del (p.Ala420fs) rs779969348
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.7056-2A>C rs1772621012
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001164508.2(NEB):c.20719del (p.His6907fs)
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) rs121917975
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs) rs796052835
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001242957.3:c.1297_1298insAlu
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter) rs1575185742
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter) rs557526069
NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs) rs2066169270
NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs) rs1553775212
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter) rs769821404
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) rs104893680
NM_001282225.2(ADA2):c.144del (p.Arg49fs) rs756881285
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)
NM_001365902.3(NFIX):c.413del (p.Lys138fs)
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter) rs1602253509
NM_001372044.2(SHANK3):c.4978G>T (p.Glu1660Ter) rs1603447380
NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter) rs1583491515
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter) rs1064796669
NM_001378.3(DYNC1I2):c.868C>T (p.Gln290Ter) rs1574596084
NM_001378120.1(MBD5):c.4869G>A (p.Trp1623Ter)
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378454.1(ALMS1):c.10771del (p.Thr3591fs) rs2104105073
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs) rs1671340542
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs) rs767847479
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
NM_001384140.1(PCDH15):c.2754dup (p.Met919fs)
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.3501+2T>C rs757418440
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3718-2A>G rs1307471318
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
NM_001384732.1(CPLANE1):c.3507+1G>A rs1580686235
NM_001384732.1(CPLANE1):c.8663+1G>T rs1580084520
NM_001384732.1(CPLANE1):c.9148dup (p.Gln3050fs) rs1579888631
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe) rs1557668270
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001904.4(CTNNB1):c.807del (p.Met271fs) rs2078160286
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002291.3(LAMB1):c.4188+1G>C
NM_002354.3(EPCAM):c.265C>T (p.Gln89Ter) rs1324088403
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_003322.6(TULP1):c.487C>T (p.Gln163Ter) rs2150927932
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.6991del (p.Pro2330_Leu2331insTer)
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.127C>T (p.Gln43Ter)
NM_003560.4(PLA2G6):c.1427+2T>C
NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003900.5(SQSTM1):c.311_312del (p.Glu104fs) rs886039781
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup) rs779557320
NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter) rs1557294228
NM_004006.3(DMD):c.5697del (p.Lys1899fs) rs794727661
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter) rs1556930579
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004429.5(EFNB1):c.101_114del (p.Pro34fs)
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004523.4(KIF11):c.2267+1G>A
NM_004523.4(KIF11):c.2548-1G>A rs1554863016
NM_004523.4(KIF11):c.2932_2933dup (p.Val978_Glu979insTer) rs2135925949
NM_004523.4(KIF11):c.77+1G>A rs1057524736
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005215.4(DCC):c.1573+2T>G
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.637A>T (p.Lys213Ter)
NM_005249.5(FOXG1):c.814_821del (p.Lys272fs)
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu) rs1565962725
NM_005677.4(COLQ):c.1061G>A (p.Trp354Ter) rs2125086401
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) rs121913562
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter) rs1038816435
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs) rs1730930342
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn) rs267607164
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg) rs864321715
NM_006269.2(RP1):c.688G>T (p.Gly230Ter) rs1585559122
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006459.4(ERLIN1):c.196-1G>A
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) rs1554122455
NM_006772.3(SYNGAP1):c.3795-1G>A
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter) rs769791060
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2710G>T (p.Gly904Ter)
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter) rs267608674
NM_007055.4(POLR3A):c.3115C>T (p.Gln1039Ter)
NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter) rs928051665
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs) rs1378008503
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_012233.3(RAB3GAP1):c.1555-1G>A rs1573584395
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_013275.6(ANKRD11):c.7192C>T (p.Gln2398Ter) rs1265287370
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs) rs1135401779
NM_015378.4(VPS13D):c.10142-2A>G
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter) rs2077221203
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) rs201008667
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs) rs1434252108
NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)
NM_017739.4(POMGNT1):c.351del (p.Thr118fs) rs386834028
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017780.4(CHD7):c.3431del (p.Leu1144fs)
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.7276del (p.Gln2426fs) rs1805723571
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_018076.5(ODAD2):c.2675C>A (p.Ser892Ter) rs587777049
NM_018082.6(POLR3B):c.1533del (p.Ile511fs) rs267608684
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.688del (p.Glu230fs) rs1557966012
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.8596_8597del (p.Leu2866fs) rs1571596976
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter) rs2125088498
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs) rs1929136990
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_020366.4(RPGRIP1):c.1468-263G>C rs1594202505
NM_020366.4(RPGRIP1):c.3238+1G>A rs1325103400
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.895_896del (p.Glu299fs) rs1594180177
NM_020451.3(SELENON):c.1176del (p.Glu394fs)
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter) rs747284477
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) rs797044621
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) rs1553198611
NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.746_747+36del rs2047932848
NM_020451.3(SELENON):c.997_1000del (p.Val333fs) rs886041686
NM_020919.4(ALS2):c.2580+2T>C rs2106023727
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter) rs1689931402
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020964.3(EPG5):c.1252+1G>A
NM_020964.3(EPG5):c.2413-2A>G
NM_020964.3(EPG5):c.6724del (p.Met2242fs)
NM_021224.6(ZNF462):c.3502dup (p.Arg1168fs)
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)
NM_023067.4(FOXL2):c.223C>T (p.Leu75Phe)
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs) rs80338924
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024757.5(EHMT1):c.1051del (p.Asp351fs)
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.315del (p.Ala106fs) rs1595940106
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.782C>A (p.Ser261Ter) rs765477482
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_030632.3(ASXL3):c.1961_1962insA (p.Ser654_Ser655insTer)
NM_030632.3(ASXL3):c.902_911del (p.Arg301fs)
NM_031844.3(HNRNPU):c.1664del (p.Leu555fs) rs1680691597
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033419.5(PGAP3):c.402dup (p.Met135fs) rs869312812
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_130466.4(UBE3B):c.2569-2A>C
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_134261.3(RORA):c.275G>C (p.Gly92Ala) rs1555427498
NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu) rs121909244
NM_138927.4(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_152564.5(VPS13B):c.412+1G>T rs1057517295
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser) rs267607116
NM_172240.3(POC1B):c.317G>C (p.Arg106Pro) rs76216585
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr) rs1602152230
NM_198880.3(QRICH1):c.845dup (p.Leu282fs)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter) rs1602070472
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_213599.3(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
Single allele

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