ClinVar Miner

List of variants reported by Undiagnosed Diseases Network, NIH

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 698
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HGVS dbSNP gnomAD frequency
NM_015602.4(TOR1AIP1):c.554-4G>A rs2245425 0.58997
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_016648.4(LARP7):c.651G>C (p.Glu217Asp) rs141178932 0.00846
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00292
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_001206999.2(CIT):c.3491A>G (p.Asn1164Ser) rs145731510 0.00151
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NC_000020.11:g.759188G>A rs544939272 0.00113
NM_001366057.1(OTUD4):c.581C>G (p.Ala194Gly) rs36225458 0.00106
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456 0.00063
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_001291303.3(FAT4):c.10560G>A (p.Met3520Ile) rs144506470 0.00047
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu) rs553950608 0.00044
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_001077415.3(CRELD1):c.959del (p.Gln320fs) rs759473511 0.00035
NM_001330078.2(NRXN1):c.3364+13144G>A rs188620205 0.00034
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile) rs200393300 0.00026
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_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs) rs538193392 0.00024
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala) rs139373929 0.00024
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_024700.4(SNIP1):c.332G>A (p.Arg111His) rs41267307 0.00019
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) rs200401432 0.00017
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys) rs755169246 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_023936.2(MRPS34):c.322-10G>A rs563189672 0.00015
NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr) rs201866563 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_015103.3(PLXND1):c.889G>A (p.Ala297Thr) rs376671922 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_203387.3(RNH1):c.1117C>T (p.Arg373Trp) rs759267447 0.00013
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_001099271.2(POC5):c.1363G>C (p.Ala455Pro) rs763910203 0.00011
NM_001366057.1(OTUD4):c.821G>A (p.Arg274His) rs369308038 0.00010
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) rs201943194 0.00008
NM_080425.4(GNAS):c.1422C>T (p.Pro474=) rs532475771 0.00008
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro) rs769009456 0.00007
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter) rs373091820 0.00006
NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val) rs201518227 0.00006
NM_016011.5(MECR):c.830+2dup rs756421370 0.00006
NM_032569.4(GLYR1):c.596C>T (p.Ala199Val) rs369808296 0.00006
NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys) rs142239530 0.00005
NM_001395891.1(CLASP1):c.196-602C>T rs863225422 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_001395891.1(CLASP1):c.196-678C>T rs544312701 0.00004
NM_001606.5(ABCA2):c.4281C>A (p.Ser1427Arg) rs762225648 0.00004
NM_002184.4(IL6ST):c.1549G>C (p.Ala517Pro) rs1381682599 0.00004
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter) rs781939614 0.00004
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln) rs1364709483 0.00004
NM_015909.4(NBAS):c.2423+404G>C rs1019313682 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_017827.4(SARS2):c.1347G>A (p.Thr449=) rs200404654 0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_033409.4(SLC52A3):c.-52+394T>C rs750886042 0.00004
NM_198076.6(COX20):c.41A>G (p.Lys14Arg) rs1057521790 0.00004
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000308.4(CTSA):c.497del (p.Glu166fs) rs1159382283 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_002725.4(PRELP):c.778G>A (p.Gly260Arg) rs137872837 0.00003
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) rs778737664 0.00003
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter) rs771379232 0.00003
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser) rs1028163227 0.00003
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102 0.00003
NM_024306.5(FA2H):c.133G>T (p.Gly45Trp) rs1247665387 0.00003
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440 0.00003
NM_144687.4(NLRP12):c.35G>A (p.Arg12His) rs376754003 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_176787.5(PIGN):c.1251+1G>A rs1462805697 0.00003
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr) rs971183744 0.00002
NM_001085411.3(NADK2):c.1A>G (p.Met1Val) rs1277388010 0.00002
NM_001322934.2(NFKB2):c.1184T>C (p.Met395Thr) rs749068539 0.00002
NM_001395891.1(CLASP1):c.196-672A>G rs863225423 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) rs372121045 0.00002
NM_005186.4(CAPN1):c.1442G>A (p.Arg481Gln) rs763471308 0.00002
NM_005198.5(CHKB):c.224+5G>C rs765251030 0.00002
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln) rs753635972 0.00002
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys) rs367904759 0.00002
NM_021222.3(PRUNE1):c.933G>A (p.Thr311=) rs747498357 0.00002
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser) rs781565158 0.00002
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His) rs376102438 0.00002
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_000182.5(HADHA):c.68-414A>G rs1045384430 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000308.4(CTSA):c.1435C>G (p.Pro479Ala) rs1411857412 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000743.5(CHRNA3):c.688G>A (p.Asp230Asn) rs777582527 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001042750.2(STAG2):c.290C>T (p.Ser97Leu) rs777893472 0.00001
NM_001114753.3(ENG):c.816+6T>C rs759191907 0.00001
NM_001163435.3(TBCK):c.456-2A>G rs780527809 0.00001
NM_001206999.2(CIT):c.652G>A (p.Val218Met) rs777293258 0.00001
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn) rs1190242728 0.00001
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln) rs1178187217 0.00001
NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs) rs780631499 0.00001
NM_001350197.2(EVI5):c.1192C>T (p.Arg398Cys) rs200507358 0.00001
NM_001378183.1(PIEZO2):c.1528-1G>A rs1555648288 0.00001
NM_001687.5(ATP5F1D):c.245C>T (p.Pro82Leu) rs867410737 0.00001
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter) rs1401839892 0.00001
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261 0.00001
NM_002775.5(HTRA1):c.835G>A (p.Val279Met) rs745305935 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_003119.4(SPG7):c.2271del (p.Met757fs) rs1217391623 0.00001
NM_003482.4(KMT2D):c.10868A>G (p.Gln3623Arg) rs1304886930 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_005811.5(GDF11):c.916G>A (p.Glu306Lys) rs1444997099 0.00001
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) rs760851100 0.00001
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn) rs780533096 0.00001
NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp) rs768628283 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_007289.4(MME):c.202C>T (p.Arg68Ter) rs201692212 0.00001
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys) rs1335783881 0.00001
NM_014413.4(EIF2AK1):c.1342A>G (p.Ile448Val) rs1583476115 0.00001
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe) rs1085307944 0.00001
NM_018077.3(RBM28):c.1745G>A (p.Arg582Gln) rs201234922 0.00001
NM_019042.5(PUS7):c.1160C>T (p.Thr387Met) rs916775904 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020999.4(NEUROG3):c.278G>T (p.Arg93Leu) rs121917838 0.00001
NM_020999.4(NEUROG3):c.392A>G (p.Tyr131Cys) rs758978508 0.00001
NM_024580.6(EFL1):c.1232T>A (p.Ile411Asn) rs775430621 0.00001
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala) rs1441937959 0.00001
NM_032536.4(NTNG2):c.1425C>G (p.Cys475Trp) rs774924316 0.00001
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter) rs376152742 0.00001
NM_052867.4(NALCN):c.2579+5G>A rs2035187622 0.00001
NM_152419.3(HGSNAT):c.493+809T>C rs1042066401 0.00001
NM_152722.5(HEPACAM):c.592G>A (p.Asp198Asn) rs570071609 0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) rs752298579 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.456G>A (p.Val152=) rs796052686 0.00001
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
Multiple alleles
NC_000001.11:g.27491184_27584566del
NC_000004.12:g.106168703_106217941del
NC_000004.12:g.1869269_1873124del
NC_000005.10:g.126508361_126769360del
NC_000005.10:g.88846693_89051376delinsG
NC_000007.14:g.1687729_1779914del
NC_000009.12:g.137729445_137745564dup
NC_000012.12:g.43775405_43788500del
NC_000014.9:g.35044389_35052476del
NC_000014.9:g.35077780_35087566del
NC_000016.10:g.78152047_78188346del
NC_000017.11:g.46096853_46403941del
NC_000017.11:g.59679324_59702065del
NC_000019.10:g.13185527_13190803dup
NC_000023.11:g.18419574_18504791del
NC_000023.11:g.64951692_65166933del
NC_012920.1(MT-CYB):m.591C>T rs2124590812
NC_012920.1(MT-ND1):m.3502T>C rs1603218987
NG_012337.3(SDHD):g.11847_14024del
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) rs63750687
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_000043.6(FAS):c.197-2A>G rs1564691414
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000088.4(COL1A1):c.104-284C>T rs2144595908
NM_000094.4(COL7A1):c.1A>G (p.Met1Val) rs1064797078
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000138.5(FBN1):c.6998-13A>G rs2042989627
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter) rs1232880706
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT rs869320698
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000161.3(GCH1):c.704G>A (p.Arg235Gln) rs1555358380
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000214.3(JAG1):c.2113+1G>T rs1294950721
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val) rs2147179733
NM_000311.5(PRNP):c.180T>C (p.Pro60=) rs1386720703
NM_000311.5(PRNP):c.198G>A (p.Gly66=) rs750069679
NM_000311.5(PRNP):c.227_228insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGln) rs193922906
NM_000334.4(SCN4A):c.3403C>A (p.Arg1135Ser) rs1287863349
NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter) rs912001256
NM_000344.4(SMN1):c.278A>C (p.Lys93Thr) rs1580886828
NM_000393.5(COL5A2):c.568-316_3525+41del
NM_000459.5(TEK):c.578A>G (p.Tyr193Cys) rs1587545234
NM_000465.4(BARD1):c.860_861del (p.Glu287fs) rs786201868
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp) rs1289406215
NM_000489.6(ATRX):c.5449-7A>G rs2067371776
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys) rs1599893542
NM_000719.7(CACNA1C):c.4078C>G (p.Leu1360Val) rs752125137
NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu) rs1555968941
NM_000808.4(GABRA3):c.1037A>G (p.Tyr346Cys) rs2124347030
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs) rs1553920379
NM_000977.4(RPL13):c.477+1G>A rs1597675888
NM_001001433.3(STX16):c.393+557_792+364del
NM_001005273.3(CHD3):c.5275C>T (p.Arg1759Trp)
NM_001007228.2(SPOP):c.223G>A (p.Gly75Arg) rs2143273650
NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala) rs2072244773
NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met) rs1446061270
NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs) rs774594582
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001032221.6(STXBP1):c.246+2_325+14del
NM_001032382.2(PQBP1):c.180-306G>A rs2063414930
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile) rs2101936697
NM_001039396.2(MPEG1):c.1290C>A (p.Tyr430Ter) rs1401529138
NM_001039591.3(USP9X):c.1315-284G>T
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001042424.3(NSD2):c.1642dup (p.Arg548fs) rs1577484648
NM_001042424.3(NSD2):c.2519G>T (p.Gly840Val) rs1577537810
NM_001042424.3(NSD2):c.957G>T (p.Arg319Ser) rs1577434780
NM_001042492.3(NF1):c.4110+945A>G rs2067468999
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg) rs1553154130
NM_001069.3(TUBB2A):c.394G>A (p.Gly132Ser) rs1064795249
NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro) rs1057521634
NM_001080472.4(FITM2):c.146T>A (p.Leu49His) rs2146092876
NM_001080472.4(FITM2):c.576del (p.Val193fs)
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter) rs2045177486
NM_001083603.3(PTCH1):c.198+468G>T rs1445378342
NM_001083962.2(TCF4):c.1486+1G>T rs2048816852
NM_001086521.2(NDUFAF8):c.1A>C (p.Met1Leu) rs1318084629
NM_001098511.3(KIF2A):c.938G>A (p.Gly313Glu) rs1561273261
NM_001099857.5(IKBKG):c.519-2A>C rs2071121693
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001110556.2(FLNA):c.4727G>A (p.Gly1576Glu) rs2148110332
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.63-73_1087del
NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) rs1569548274
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001127173.3(CADM3):c.1000G>T (p.Gly334Cys)
NM_001127222.2(CACNA1A):c.4052G>T (p.Arg1351Leu) rs1555745467
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001128840.3(CACNA1D):c.2239T>C (p.Phe747Leu)
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu) rs1363544084
NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe) rs1573029592
NM_001136157.2(OTUD5):c.1465G>A (p.Gly489Ser) rs2063620799
NM_001145346.2(RBMXL3):c.2635G>A (p.Asp879Asn)
NM_001161.5(NUDT2):c.186del (p.Ala63fs) rs529087882
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001163435.2(TBCK):c.2060-9050_2235+26133del
NM_001163435.3(TBCK):c.1860+1G>A rs1303851095
NM_001163435.3(TBCK):c.2060-6793_2235+427del
NM_001163435.3(TBCK):c.2060_2235+1del rs1560755661
NM_001163435.3(TBCK):c.659-1G>A rs1579391376
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) rs1475000361
NM_001165963.4(SCN1A):c.2616_3206delinsAAGTTGGCAAAA (p.Trp873_Ile1069delinsSerTrpGlnAsn)
NM_001173464.2(KIF21A):c.1991T>C (p.Leu664Pro) rs1555167299
NM_001190274.2(FBXO11):c.2685_2686del (p.Leu895_Ser896insTer) rs1572753822
NM_001195553.2(DCX):c.946+4588G>T rs2147622525
NM_001195605.2(ZNF865):c.2091C>G (p.Tyr697Ter)
NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter) rs1555038111
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.2108T>G (p.Val703Gly) rs1572706648
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001220.5(CAMK2B):c.903G>A (p.Lys301=)
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter) rs751093906
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter) rs1563452941
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter) rs387906653
NM_001257180.2(SLC20A2):c.935-2A>G rs1586025869
NM_001260.3(CDK8):c.586A>T (p.Thr196Ser)
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del) rs878854378
NM_001267550.2(TTN):c.44516del (p.Asp14839fs) rs2058865334
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys) rs1644918844
NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu) rs2038825509
NM_001303256.3(MORC2):c.1265A>G (p.Glu422Gly) rs2040680054
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303457.2(TTI1):c.1271A>G (p.His424Arg)
NM_001303457.2(TTI1):c.629dup (p.Leu210fs)
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.2762_2763del (p.Thr921fs) rs1927146242
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001330078.2(NRXN1):c.1292G>A (p.Ser431Asn) rs796052788
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001330288.2(SMARCC2):c.1926+1G>T rs1555221275
NM_001330701.2(AGTPBP1):c.2336-1G>T rs1554699491
NM_001347721.2(DYRK1A):c.201_204del (p.Asn68fs) rs1569355102
NM_001348323.3(TRIP12):c.1279del (p.Ser427fs) rs1553655558
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) rs878854424
NM_001352754.2(ARMC9):c.-41-2521_177+2986del
NM_001352754.2(ARMC9):c.725T>A (p.Ile242Asn) rs147777576
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) rs1602253296
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu) rs2063927856
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001357.5(DHX9):c.3488A>G (p.Lys1163Arg)
NM_001365276.2(TNXB):c.7943G>A (p.Trp2648Ter) rs968981994
NM_001367916.1(MAGT1):c.318C>A (p.Tyr106Ter) rs2077018821
NM_001371727.1(GABRB2):c.904G>A (p.Val302Met) rs1085307993
NM_001371986.1(UNC80):c.8772+2T>G rs1553621496
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001375380.1(EBF3):c.950C>T (p.Pro317Leu)
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.4147T>C (p.Tyr1383His)
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001376571.1(MADD):c.1115C>T (p.Pro372Leu) rs147713337
NM_001376571.1(MADD):c.4080del (p.Lys1361fs) rs2086196870
NM_001378183.1(PIEZO2):c.5257-1G>A rs1555630216
NM_001378452.1(ITPR1):c.5980-17G>A rs2046415471
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter) rs1572935708
NM_001382241.1(TNPO2):c.1643C>T (p.Ser548Phe) rs2145492753
NM_001382241.1(TNPO2):c.83A>G (p.Gln28Arg) rs2145624064
NM_001382508.1(DROSHA):c.3656A>G (p.Asp1219Gly) rs1579987863
NM_001383.6(DPH1):c.749+39G>A
NM_001385012.1(NBEA):c.5899G>A (p.Gly1967Arg) rs1594162606
NM_001385682.1(MAP4):c.1370A>G (p.Asn457Ser)
NM_001385682.1(MAP4):c.5800_5820del (p.Ser1934_Pro1940del)
NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser) rs1478088223
NM_001393769.1(MED12L):c.3664+2T>G
NM_001394372.1(BICRA):c.936del (p.Ala313fs) rs1973010599
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001395891.1(CLASP1):c.196-601A>C rs767236617
NM_001395891.1(CLASP1):c.196-670T>C rs982261295
NM_001606.5(ABCA2):c.1193C>A (p.Thr398Lys) rs143473036
NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly) rs11549225
NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr) rs1559759089
NM_001697.3(ATP5PO):c.87+3A>G rs1987287870
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) rs1565679039
NM_001844.5(COL2A1):c.3165+2_3166-84del rs1938789358
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) rs1057523354
NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu) rs1878013473
NM_001845.6(COL4A1):c.4357C>T (p.Gln1453Ter) rs2139146179
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly) rs1569518070
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle) rs1559470315
NM_001927.4(DES):c.1255_1271del (p.Pro419fs) rs1553603732
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001991.5(EZH1):c.2033C>G (p.Ala678Gly) rs2053293877
NM_001999.4(FBN2):c.4863C>G (p.Cys1621Trp) rs1420949011
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002055.5(GFAP):c.989G>C (p.Arg330Pro) rs983143417
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg) rs1276519904
NM_002180.3(IGHMBP2):c.1235+894C>A rs1202430946
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002
NM_002184.4(IL6ST):c.1552+3A>C rs1580801563
NM_002184.4(IL6ST):c.2121del (p.Asp707_Leu708insTer) rs1750932254
NM_002253.4(KDR):c.3274G>C (p.Gly1092Arg)
NM_002336.3(LRP6):c.3399del (p.Ala1134fs) rs2136885834
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro) rs1421405659
NM_002539.3(ODC1):c.1313_1316del (p.Pro438fs) rs1671795191
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys) rs1602169116
NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter) rs1932260742
NM_002693.3(POLG):c.641C>T (p.Ala214Val) rs948866053
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr) rs730880503
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_002816.5(PSMD12):c.1033G>T (p.Glu345Ter) rs1403781576
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002868.4(RAB5B):c.406G>C (p.Asp136His) rs2136490152
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys) rs1555429629
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_002945.5(RPA1):c.808A>G (p.Thr270Ala) rs2151286956
NM_003011.4(SET):c.340_341del (p.Glu114fs) rs1861593395
NM_003011.4(SET):c.663+5G>C rs1861628072
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003107.3(SOX4):c.1040C>A (p.Ser347Ter) rs2113558441
NM_003108.4(SOX11):c.293del (p.Phe98fs) rs1558373252
NM_003128.3(SPTBN1):c.613G>A (p.Gly205Ser) rs1572690133
NM_003128.3(SPTBN1):c.803C>G (p.Thr268Ser) rs2103866356
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003470.3(USP7):c.2169_2170del (p.Arg723fs) rs1555462347
NM_003491.4(NAA10):c.139G>A (p.Asp47Asn)
NM_003545.4(H4C5):c.295T>C (p.Tyr99His)
NM_003560.2(PLA2G6):c.-545_-46+1931delinsCGATCTC
NM_003560.4(PLA2G6):c.2035-926G>A
NM_003620.4(PPM1D):c.1535del (p.Asn512fs) rs763475304
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)
NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer) rs2102658561
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003718.5(CDK13):c.181del (p.Leu61fs) rs1554317002
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_003797.5(EED):c.1097T>C (p.Met366Thr) rs1565706229
NM_003870.4(IQGAP1):c.1367T>C (p.Met456Thr)
NM_003978.5(PSTPIP1):c.1222dup (p.Val408fs) rs1392091785
NM_004006.3(DMD):c.9974+175T>A rs1602451773
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln) rs2144189607
NM_004046.6(ATP5F1A):c.992C>T (p.Pro331Leu) rs2144178681
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004204.5(PIGQ):c.49G>A (p.Gly17Arg) rs149108761
NM_004208.4(AIFM1):c.720C>T (p.Asp240=) rs1569418673
NM_004208.4(AIFM1):c.760G>A (p.Glu254Lys) rs2124656997
NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter) rs1400419650
NM_004239.4(TRIP11):c.4557+1G>T rs1555386022
NM_004247.4(EFTUD2):c.1567del (p.Gln523fs) rs1555565774
NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu) rs397507478
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp) rs776975632
NM_004380.3(CREBBP):c.3699-1469_3836+1579del
NM_004408.4(DNM1):c.1493+5G>A rs752004261
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004521.3(KIF5B):c.260C>T (p.Thr87Ile)
NM_004539.4(NARS1):c.1251+699A>G
NM_004583.4(RAB5C):c.239A>G (p.Gln80Arg) rs2144062523
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu) rs1555939456
NM_004599.4(SREBF2):c.1556G>A (p.Arg519His)
NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs) rs1597981046
NM_004655.4(AXIN2):c.196G>A (p.Glu66Lys) rs2144589822
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg) rs1705222655
NM_004722.4(AP4M1):c.929+5G>A rs1293317548
NM_004766.3(COPB2):c.1237_1238del (p.Lys413fs) rs2107801839
NM_004766.3(COPB2):c.1906dup (p.Thr636fs) rs2107797719
NM_004793.4(LONP1):c.1694A>G (p.Tyr565Cys) rs1599450036
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004937.3(CTNS):c.479del (p.Phe160fs) rs2076150607
NM_004937.3(CTNS):c.62-2864_225+2278del
NM_004944.4(DNASE1L3):c.179T>G (p.Ile60Ser) rs2097405348
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs) rs751206379
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile) rs587777893
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_005032.7(PLS3):c.583-3C>A rs2147551714
NM_005052.3(RAC3):c.34G>C (p.Gly12Arg) rs2043431490
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
NM_005273.4(GNB2):c.229G>A (p.Gly77Arg) rs1804373189
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005443.5(PAPSS1):c.286A>G (p.Asn96Asp)
NM_005443.5(PAPSS1):c.331C>T (p.Arg111Ter)
NM_005506.4(SCARB2):c.367dup (p.Gln123fs) rs1553948516
NM_005559.4(LAMA1):c.1706G>C (p.Trp569Ser) rs1254270535
NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter) rs1568019012
NM_005559.4(LAMA1):c.9197del (p.Phe3066fs) rs1555640521
NM_005591.4(MRE11):c.1500+1153_1563+1027del
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005631.5(SMO):c.1234C>T (p.Leu412Phe) rs879255280
NM_005632.3(CAPN15):c.2206C>T (p.Arg736Ter)
NM_005660.3(SLC35A2):c.245G>T (p.Cys82Phe) rs1557043622
NM_005677.4(COLQ):c.1212del (p.Cys405fs) rs771866680
NM_005677.4(COLQ):c.718-1276C>T rs2062220124
NM_005811.5(GDF11):c.1008C>G (p.Tyr336Ter) rs1449282134
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005859.5(PURA):c.299T>C (p.Leu100Pro) rs587782995
NM_005859.5(PURA):c.493G>A (p.Gly165Ser) rs1561793272
NM_005932.4(MIPEP):c.787-51_993-181del
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006019.4(TCIRG1):c.269C>A (p.Pro90Gln) rs908094911
NM_006079.5(CITED2):c.701A>C (p.Glu234Ala) rs1583066622
NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp) rs748787734
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser) rs2131435194
NM_006133.3(DAGLA):c.2456_2457del (p.His819fs)
NM_006160.4(NEUROD2):c.488T>C (p.Leu163Pro) rs2144812147
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006247.4(PPP5C):c.139G>A (p.Ala47Thr)
NM_006295.3(VARS1):c.2590_2592delinsTGA (p.Ser864Ter)
NM_006295.3(VARS1):c.3288G>T (p.Glu1096Asp)
NM_006397.3(RNASEH2A):c.855C>G (p.His285Gln) rs1568388876
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) rs1554122458
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg) rs151344517
NM_006940.6(SOX5):c.224_225del (p.Gln75fs)
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del) rs1590955348
NM_007055.4(POLR3A):c.1400C>T (p.Ser467Leu) rs1589316371
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007212.4(RNF2):c.209G>A (p.Arg70His) rs1651767648
NM_012062.5(DNM1L):c.2094TCT[1] (p.Leu700del) rs2137612089
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_012398.3(PIP5K1C):c.436G>A (p.Glu146Lys) rs2145483622
NM_012398.3(PIP5K1C):c.662A>G (p.Tyr221Cys) rs991616868
NM_013265.4(VPS51):c.1878+42G>A
NM_013403.3(STRN4):c.282+78C>T rs1555735545
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu) rs778625348
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter) rs1002531030
NM_013432.5(TONSL):c.866-1G>C rs1424148372
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014225.6(PPP2R1A):c.96C>G (p.Ile32Met)
NM_014232.3(VAMP2):c.221C>T (p.Ala74Val) rs1983316869
NM_014365.3(HSPB8):c.520_533del (p.Tyr174fs) rs1565930588
NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr) rs1307997067
NM_014727.3(KMT2B):c.118del (p.Ala40fs) rs1969024891
NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs) rs1555727493
NM_014727.3(KMT2B):c.4931G>T (p.Cys1644Phe) rs1555731819
NM_014727.3(KMT2B):c.7614del (p.Thr2539fs) rs2146481256
NM_014738.6(TMEM94):c.2605dup (p.Met869fs) rs1163944538
NM_014738.6(TMEM94):c.765-1G>C rs1352010373
NM_014820.5(TOMM70):c.1820C>T (p.Thr607Ile) rs1706440222
NM_014874.4(MFN2):c.600-31T>G
NM_015001.3(SPEN):c.3978A>G (p.Ile1326Met)
NM_015021.3(ZNF292):c.6578A>C (p.Tyr2193Ser) rs1554208945
NM_015057.5(MYCBP2):c.8005C>T (p.Arg2669Ter)
NM_015076.5(CDK19):c.586A>G (p.Thr196Ala) rs1779473650
NM_015100.4(POGZ):c.2546-20T>A rs2102153141
NM_015103.3(PLXND1):c.5629A>G (p.Ile1877Val)
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs) rs1569324457
NM_015338.6(ASXL1):c.1720-1G>A rs1254271466
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015426.5(POC1A):c.79_87del (p.Phe27_Ile29del) rs2107211932
NM_015570.4(AUTS2):c.1534dup (p.Ala512fs) rs1789927813
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr) rs1563183492
NM_015836.4(WARS2):c.148G>T (p.Gly50Cys) rs11552864
NM_015932.6(POMP):c.334_335del (p.Ile112fs) rs1555257073
NM_015949.3(GET4):c.837A>G (p.Ile279Met) rs1844404490
NM_015958.3(DPH5):c.329A>G (p.Asn110Ser)
NM_015958.3(DPH5):c.619C>T (p.Arg207Ter)
NM_016011.4(MECR):c.-39G>C rs749435497
NM_016123.4(IRAK4):c.364C>T (p.Gln122Ter) rs1416395914
NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln)
NM_016339.6(RAPGEFL1):c.1264C>T (p.Arg422Ter)
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs) rs1563920252
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter) rs1564421528
NM_016653.3(MAP3K20):c.834CAA[1] (p.Asn279del) rs2106303300
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_017617.5(NOTCH1):c.5078T>C (p.Phe1693Ser)
NM_017677.4(MTMR8):c.1951G>A (p.Asp651Asn)
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.2239-20_2239-6del rs2150708627
NM_017827.4(SARS2):c.1055A>C (p.Glu352Ala) rs1600163739
NM_017934.7(PHIP):c.3656+1242A>T rs1582111930
NM_018077.3(RBM28):c.1489_1492dup (p.Val498fs)
NM_018082.6(POLR3B):c.2084-3092_2294-553del
NM_018116.4(MSTO1):c.676C>T (p.Gln226Ter) rs1208636573
NM_018133.4(MSL2):c.694_697del (p.Ser232fs) rs1576352885
NM_018263.6(ASXL2):c.2424del (p.Thr809fs) rs886041065
NM_018328.4:c.-925+35305_-557+13791del
NM_018671.5(UNC45A):c.1339_1340delinsCT (p.Ala447Leu) rs2036591621
NM_018671.5(UNC45A):c.710T>C (p.Leu237Pro) rs1291676751
NM_018684.4(ZC4H2):c.53+10513C>T rs1931569117
NM_019042.5(PUS7):c.398+1G>T rs1264890888
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019109.5(ALG1):c.876C>G (p.Phe292Leu) rs1009298200
NM_019109.5(ALG1):c.877T>C (p.Ser293Pro) rs1555452127
NM_020320.5(RARS2):c.1612del (p.Thr538fs) rs781417096
NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)
NM_020442.6(VARS2):c.986-14A>G rs1297230026
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020699.4(GATAD2B):c.1075C>T (p.Gln359Ter) rs1557781252
NM_020699.4(GATAD2B):c.667_670del (p.Lys224fs) rs1570929072
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020987.5(ANK3):c.8592G>T (p.Lys2864Asn) rs186051700
NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) rs1555507479
NM_021005.4(NR2F2):c.746G>A (p.Trp249Ter) rs1567138573
NM_021244.5(RRAGD):c.227C>T (p.Ser76Leu)
NM_021930.6(RINT1):c.2096GAG[1] (p.Gly700del) rs1304094668
NM_021930.6(RINT1):c.604C>T (p.Gln202Ter) rs1562847240
NM_022089.4(ATP13A2):c.1045_1046del (p.Ser349fs)
NM_022089.4(ATP13A2):c.1749+442_2251+512del
NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)
NM_022786.3(ARV1):c.674-2A>T rs1192627743
NM_024063.3(AFG2B):c.95G>A (p.Gly32Asp)
NM_024496.4(IRF2BPL):c.1259T>C (p.Phe420Ser) rs1566785990
NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs) rs1566785444
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter) rs1566786613
NM_024496.4(IRF2BPL):c.514G>T (p.Glu172Ter) rs1448259271
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter) rs1555377415
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461
NM_024580.6(EFL1):c.1971C>G (p.His657Gln) rs779232326
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter) rs387907145
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs) rs786205124
NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val) rs1554888939
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_025137.4(SPG11):c.2912_2914delinsGAT (p.Ile971_Gln972delinsArgTer) rs1555454508
NM_025137.4(SPG11):c.642del (p.Phe214fs) rs312262717
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) rs1052954321
NM_030632.3(ASXL3):c.1082+1781_3039+950del
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030665.4(RAI1):c.2472dup (p.Leu825fs) rs1555565492
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) rs866294686
NM_030948.3:c.251-63908_415+29843dup
NM_031157.4(HNRNPA1):c.1063+15_*5-68del rs1944223180
NM_031263.4(HNRNPK):c.203T>G (p.Leu68Arg) rs1588432187
NM_031263.4(HNRNPK):c.214-35A>G rs1554700718
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_032119.4(ADGRV1):c.12511G>T (p.Gly4171Cys) rs1581088032
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032536.4(NTNG2):c.858-13G>A rs1840794100
NM_032569.4(GLYR1):c.584G>T (p.Gly195Val) rs1555500532
NM_032638.5(GATA2):c.839del (p.Pro280fs) rs1576748366
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) rs1596048227
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_033453.4(ITPA):c.263+583_295+1203del
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter) rs201395198
NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn)
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_134261.3(RORA):c.821-17_827delinsGCTTTCGTGTTTG rs1595874995
NM_138288.4(SPTSSA):c.152C>T (p.Thr51Ile)
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777
NM_138773.4(SLC25A46):c.385-852_385-739del rs1580858058
NM_138773.4(SLC25A46):c.992T>C (p.Leu331Pro) rs1580870952
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_139058.3(ARX):c.196+129_1073+903del
NM_139137.4(KCNC2):c.1405G>T (p.Val469Leu) rs2136943414
NM_144687.4(NLRP12):c.1504_1506del (p.Lys502del) rs1403147116
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs) rs1569151872
NM_145117.5(NAV2):c.5011_5012del (p.Leu1672fs) rs2153657779
NM_145117.5(NAV2):c.6580del (p.Tyr2193_Ile2194insTer) rs2153703273
NM_145166.4(ZBTB47):c.2039A>G (p.Glu680Gly)
NM_145207.3(AFG2A):c.164-1053_446+1328dup
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met) rs1318217031
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152424.4(AMER1):c.565C>T (p.Gln189Ter) rs1602068260
NM_152713.5(STT3A):c.1631A>G (p.Asn544Ser)
NM_152906.5(TANGO2):c.57-1743_*10769del
NM_153354.5(TMEM161B):c.800+5G>A
NM_153354.5(TMEM161B):c.980T>C (p.Leu327Ser)
NM_170606.3(KMT2C):c.8026C>T (p.Gln2676Ter) rs1587953116
NM_170707.4(LMNA):c.1157+23_1158-45del rs1572363509
NM_170707.4(LMNA):c.937-22_937-10del rs886043199
NM_177972.3(TUB):c.1194_1195del (p.Arg398fs) rs727502810
NM_177972.3(TUB):c.1215+1G>A rs1589996458
NM_178526.5(SLC25A42):c.309C>G (p.Tyr103Ter) rs1568523935
NM_182961.4(SYNE1):c.1369del (p.Asp457fs) rs1554768245
NM_183065.4(TMEM107):c.*609G>A rs200531412
NM_183065.4(TMEM107):c.*617C>T rs117735243
NM_183065.4(TMEM107):c.*634C>T rs545394298
NM_183065.4(TMEM107):c.*745C>G rs746503581
NM_183357.3(ADCY5):c.3622C>T (p.Arg1208Cys)
NM_183381.3(RNF13):c.919G>T (p.Glu307Ter)
NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter) rs1559931177
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_203387.3(RNH1):c.682_685delinsCTGGGCCTTGGGCA (p.Ser228fs) rs1849424627
NR_023317.1(RNU7-1):n.23T>G
NR_023317.1(RNU7-1):n.28C>T rs180837208
NR_029686.1(MIR145):n.18C>A
Single allele
m.15923A>G rs1556424691
m.4291T>C rs121434471
m.8344A>G rs118192098

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