ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Revvity Omics, Revvity and "likely pathogenic" from any submitter

Minimum review status of the submission from Revvity Omics, Revvity: Collection method of the submission from Revvity Omics, Revvity:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 602
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00343
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00283
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00245
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00081
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00072
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00070
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00057
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00054
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His) rs368075745 0.00051
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00049
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00046
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00040
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_001142864.4(PIEZO1):c.1107+1G>C rs199524784 0.00040
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00037
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367 0.00037
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00036
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00032
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199 0.00026
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00026
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00025
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00021
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00019
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00016
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00015
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721 0.00011
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00011
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543 0.00011
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00011
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00010
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn) rs142527052 0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs201573863 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_014967.5(FAN1):c.2854C>T (p.Arg952Ter) rs184745027 0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448 0.00009
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00008
NM_006662.3(SRCAP):c.1135-2A>G rs149689808 0.00008
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00007
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys) rs199470444 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_001010867.4(IBA57):c.679+3A>G rs754620334 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 0.00006
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn) rs780568525 0.00006
NM_138413.4(HOGA1):c.908G>A (p.Arg303His) rs761150081 0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00005
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00005
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His) rs138626345 0.00005
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp) rs750275456 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe) rs370050799 0.00005
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met) rs370108917 0.00005
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198 0.00005
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile) rs782250606 0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys) rs200550567 0.00005
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg) rs567130416 0.00005
NM_138413.4(HOGA1):c.952C>T (p.Arg318Cys) rs776161817 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00004
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00004
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00004
NM_001127178.3(PIGG):c.2180G>A (p.Gly727Glu) rs201842856 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter) rs752341132 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081 0.00004
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) rs753340395 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804 0.00003
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00003
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000298.6(PKLR):c.257G>A (p.Arg86His) rs375471342 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu) rs769196275 0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00003
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_005094.4(SLC27A4):c.1510C>T (p.Arg504Cys) rs770645288 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys) rs368932156 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) rs1057523761 0.00003
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln) rs769195904 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter) rs757546009 0.00003
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala) rs752666494 0.00003
NM_145207.3(AFG2A):c.2159C>T (p.Ala720Val) rs758955886 0.00003
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln) rs749698519 0.00003
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe) rs772929002 0.00003
NM_000016.6(ACADM):c.946-6T>G rs765793260 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00002
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly) rs201345740 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623 0.00002
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_001360016.2(G6PD):c.634A>G (p.Met212Val) rs782754619 0.00002
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met) rs745872044 0.00002
NM_001673.5(ASNS):c.1019G>A (p.Arg340His) rs1360484422 0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu) rs777354267 0.00002
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys) rs778496291 0.00002
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp) rs375724338 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_020320.5(RARS2):c.25A>G (p.Ile9Val) rs748335175 0.00002
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549 0.00002
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser) rs606231407 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter) rs910401729 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_000016.6(ACADM):c.216+5G>T rs528788578 0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp) rs866464446 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln) rs1557052417 0.00001
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe) rs1211112295 0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000157.4(GBA1):c.593C>T (p.Pro198Leu) rs80222298 0.00001
NM_000158.4(GBE1):c.429G>T (p.Lys143Asn) rs376374984 0.00001
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys) rs1555751336 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys) rs727503258 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) rs768002493 0.00001
NM_000298.6(PKLR):c.187G>A (p.Ala63Thr) rs1165604977 0.00001
NM_000298.6(PKLR):c.514G>C (p.Glu172Gln) rs757359024 0.00001
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser) rs121918150 0.00001
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn) rs754973425 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala) rs779885518 0.00001
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser) rs779829759 0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000521.4(HEXB):c.771+985G>A rs1210377071 0.00001
NM_000531.6(OTC):c.286T>C (p.Ser96Pro) rs184053962 0.00001
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser) rs766407858 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys) rs757399861 0.00001
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu) rs143179371 0.00001
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp) rs1229854214 0.00001
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg) rs1393197844 0.00001
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His) rs1251260760 0.00001
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly) rs193922801 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln) rs755875230 0.00001
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) rs144064367 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) rs764596094 0.00001
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser) rs886039754 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys) rs1553412643 0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe) rs1170665581 0.00001
NM_001212.4(C1QBP):c.576+2T>A rs779379127 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.26482+1G>C rs1440418037 0.00001
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) rs150954246 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_001289808.2(CRYAB):c.2T>C (p.Met1Thr) rs577253222 0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser) rs962504241 0.00001
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00001
NM_004614.5(TK2):c.310C>T (p.Arg104Cys) rs1194187379 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_005055.5(RAPSN):c.491G>A (p.Arg164His) rs374588028 0.00001
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg) rs202126269 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256 0.00001
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val) rs1413827545 0.00001
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe) rs761616685 0.00001
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp) rs376581557 0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) rs772606107 0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter) rs139603739 0.00001
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys) rs398124227 0.00001
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr) rs1275511136 0.00001
NM_007126.5(VCP):c.1460G>A (p.Arg487His) rs767379602 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031 0.00001
NM_015937.6(PIGT):c.1595C>T (p.Thr532Met) rs1466637488 0.00001
NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His) rs747962927 0.00001
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) rs1486994359 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_018082.6(POLR3B):c.308G>A (p.Arg103His) rs780148992 0.00001
NM_020320.5(RARS2):c.1679G>A (p.Arg560His) rs756502974 0.00001
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr) rs761960636 0.00001
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu) rs764158202 0.00001
NM_021942.6(TRAPPC11):c.3189+1G>A rs1170374164 0.00001
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys) rs746357591 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022168.4(IFIH1):c.2317G>T (p.Glu773Ter) rs201472224 0.00001
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe) rs760881424 0.00001
NM_022445.4(TPK1):c.620A>T (p.Asp207Val) rs747262651 0.00001
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val) rs777812455 0.00001
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653 0.00001
NM_078470.6(COX15):c.211C>T (p.Arg71Ter) rs751819645 0.00001
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp) rs772828912 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn) rs751780827 0.00001
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033 0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645 0.00001
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp) rs1323349209 0.00001
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu) rs575008764 0.00001
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr) rs2071296504
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys) rs890921874
NM_000023.4(SGCA):c.304G>T (p.Val102Phe) rs1266940329
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro) rs2148399307
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu) rs868934170
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
NM_000051.4(ATM):c.8732C>A (p.Thr2911Asn) rs794728018
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del) rs886043333
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe) rs483353046
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala) rs1085307989
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000089.4(COL1A2):c.2187+5G>A rs2484725506
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser) rs1645443275
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000098.3(CPT2):c.631C>T (p.Pro211Ser) rs796051942
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr) rs1417389111
NM_000162.5(GCK):c.370G>C (p.Asp124His) rs759072800
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.200T>C (p.Leu67Pro) rs2520901143
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) rs2089452549
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del) rs1349925286
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn) rs199472905
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser) rs730880880
NM_000257.4(MYH7):c.2467G>C (p.Gly823Arg) rs1566531657
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr) rs1403323591
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000298.6(PKLR):c.1705C>T (p.Arg569Trp) rs1052176
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del) rs1436671530
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg) rs750836049
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys) rs747335514
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His) rs774242947
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp) rs2518674832
NM_000448.3(RAG1):c.2564A>G (p.Asn855Ser) rs199474690
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala) rs1568811489
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro) rs755832705
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp) rs2529974111
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.13909A>C (p.Thr4637Pro) rs118192166
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser) rs118192181
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu) rs193922895
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln) rs1053579438
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys) rs1568440962
NM_000552.5(VWF):c.4094T>C (p.Leu1365Pro) rs745569482
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000637.5(GSR):c.94G>T (p.Glu32Ter) rs770133920
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser) rs1570987954
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala) rs2475296530
NM_000969.5(RPL5):c.715A>G (p.Met239Val) rs1336022942
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter) rs1163930676
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg) rs1428979499
NM_001029.5(RPS26):c.344T>C (p.Met115Thr) rs2540724191
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val) rs794728792
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp) rs1553621798
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu) rs1553255312
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001127453.2(GSDME):c.212-1G>A rs1790597003
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal) rs1446214240
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu) rs796053094
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile) rs796052962
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del) rs770336804
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs) rs2468365185
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs) rs2154347788
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter) rs974323028
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys) rs2149071722
NM_001330288.2(SMARCC2):c.1382+1G>A rs2540917266
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu) rs747501109
NM_001355436.2(SPTB):c.1342-10G>A rs1037576854
NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln) rs1452760098
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001363118.2(SLC52A2):c.940G>A (p.Val314Met) rs2489047024
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) rs993001712
NM_001376.5(DYNC1H1):c.2252G>A (p.Arg751Gln) rs2141275001
NM_001382391.1(CSPP1):c.3330+2T>C rs527372531
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys) rs1057517719
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_002437.5(MPV17):c.190C>T (p.Pro64Ser) rs2465683495
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro) rs2141926322
NM_003491.4(NAA10):c.10C>G (p.Arg4Gly) rs2148537151
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004006.3(DMD):c.10103A>G (p.Asp3368Gly) rs2148292190
NM_004006.3(DMD):c.170T>G (p.Leu57Arg) rs886044431
NM_004006.3(DMD):c.649G>A (p.Asp217Asn) rs2077187880
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) rs2030801584
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala) rs945866627
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004544.4(NDUFA10):c.604dup (p.His202fs) rs746019378
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg) rs2469652231
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) rs1984262011
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) rs782199122
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_005458.8(GABBR2):c.1724C>A (p.Thr575Asn) rs2491384090
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser) rs1057518966
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr) rs1056919085
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg) rs775902505
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg) rs387907213
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006493.4(CLN5):c.173+5G>A rs2034192763
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006662.3(SRCAP):c.8257C>T (p.Arg2753Trp) rs1131691316
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn) rs2143171648
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu) rs2489236019
NM_012243.3(SLC35A3):c.826_827del (p.Leu276fs) rs747536139
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_015047.3(EMC1):c.2300G>T (p.Gly767Val) rs766820627
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu) rs772721937
NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter) rs200839945
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val) rs972404343
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter) rs1359575116
NM_019108.4(SMG9):c.701+4A>G rs869312742
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly) rs1459143051
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp) rs371727967
NM_025150.5(TARS2):c.774+5G>T rs2526278171
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) rs1085307129
NM_032756.4(HPDL):c.816_817del (p.Val273fs) rs2149082140
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) rs2034823903
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu) rs387907150
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) rs1791737049
NM_145045.5(ODAD3):c.1116+1G>T rs761992279
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del) rs1562582216
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro) rs2102886618
NM_175748.4(UBR7):c.618del (p.Glu207fs) rs1894637828
NM_177924.5(ASAH1):c.994G>C (p.Asp332His) rs941670381
NM_177924.5(ASAH1):c.998G>A (p.Arg333His) rs1588974098
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe) rs773779627
NM_213599.3(ANO5):c.2498T>G (p.Met833Arg) rs142073798

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