ClinVar Miner

List of variants reported as uncertain significance by Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital

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ClinVar version:
Total variants: 435
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HGVS dbSNP gnomAD frequency
NM_013447.4(ADGRE2):c.461A>T (p.Lys154Ile) rs12985807 0.32696
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) rs35064500 0.00470
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_018725.4(IL17RB):c.146G>A (p.Arg49Gln) rs116821431 0.00281
NM_031272.5(TEX14):c.3818-1G>A rs55759912 0.00233
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro) rs142253225 0.00189
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_013447.4(ADGRE2):c.457C>T (p.Leu153Phe) rs12976493 0.00118
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_013391.3(DMGDH):c.972G>A (p.Trp324Ter) rs139044238 0.00088
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) rs201618718 0.00063
NM_198506.5(LRIT3):c.583A>G (p.Ile195Val) rs182054858 0.00063
NM_016356.5(DCDC2):c.817C>T (p.Pro273Ser) rs146787541 0.00061
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816 0.00052
NM_145207.3(AFG2A):c.1622C>G (p.Pro541Arg) rs143957561 0.00049
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) rs141550859 0.00049
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_006764.5(IFRD2):c.47G>A (p.Arg16His) rs369636527 0.00046
NM_000104.4(CYP1B1):c.917G>A (p.Gly306Glu) rs372321135 0.00039
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His) rs115066564 0.00036
NM_001384125.1(BLTP1):c.3046G>A (p.Gly1016Ser) rs186329526 0.00032
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) rs753397854 0.00029
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_004473.4(FOXE1):c.353C>T (p.Ala118Val) rs149751469 0.00026
NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys) rs142806268 0.00026
NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe) rs201638660 0.00025
NM_198282.4(STING1):c.289G>A (p.Ala97Thr) rs181566154 0.00025
NM_032229.3(SLITRK6):c.2413T>C (p.Tyr805His) rs200882739 0.00024
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp) rs149071920 0.00024
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_001199799.2(ILDR1):c.866T>G (p.Leu289Trp) rs141450561 0.00023
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_003114.5(SPAG1):c.2707G>A (p.Asp903Asn) rs148756457 0.00021
NM_015192.4(PLCB1):c.2474A>G (p.Lys825Arg) rs146646749 0.00019
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_015340.4(LARS2):c.2620G>A (p.Glu874Lys) rs142215302 0.00015
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00014
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys) rs559363120 0.00013
NM_152641.4(ARID2):c.4853C>A (p.Ser1618Tyr) rs144553917 0.00013
NM_170606.3(KMT2C):c.1042G>A (p.Asp348Asn) rs201834857 0.00013
NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr) rs558035857 0.00012
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513 0.00012
NM_024884.3(L2HGDH):c.713A>G (p.Tyr238Cys) rs149220807 0.00012
NM_053025.4(MYLK):c.3112A>G (p.Met1038Val) rs763247566 0.00012
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) rs143860237 0.00011
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866 0.00011
NM_000383.4(AIRE):c.927C>G (p.Ile309Met) rs74162062 0.00010
NM_001135022.2(ELMOD3):c.298C>T (p.Gln100Ter) rs753265000 0.00010
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His) rs199798095 0.00010
NM_174924.2(PDILT):c.854G>A (p.Ser285Asn) rs193085306 0.00010
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn) rs773799685 0.00009
NM_001292063.2(OTOG):c.7054C>T (p.Arg2352Trp) rs756364973 0.00009
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg) rs764125338 0.00009
NM_014002.4(IKBKE):c.541-5G>A rs187136164 0.00009
NM_014241.4(HACD1):c.853G>C (p.Glu285Gln) rs556888412 0.00009
NM_017872.5(THG1L):c.136A>T (p.Thr46Ser) rs779170813 0.00009
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg) rs192687061 0.00009
NM_031475.3(ESPN):c.1025C>T (p.Ser342Phe) rs199502924 0.00009
NM_001163435.3(TBCK):c.1804G>A (p.Ala602Thr) rs150221832 0.00008
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_000046.5(ARSB):c.1534G>A (p.Val512Met) rs201928777 0.00006
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 0.00006
NM_004946.3(DOCK2):c.2704-3C>T rs144101028 0.00006
NM_012452.3(TNFRSF13B):c.740C>T (p.Thr247Met) rs149635611 0.00006
NM_014915.3(ANKRD26):c.2260A>T (p.Lys754Ter) rs767240266 0.00006
NM_015346.4(ZFYVE26):c.2585C>G (p.Pro862Arg) rs138050875 0.00006
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) rs202121741 0.00006
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_000326.5(RLBP1):c.167A>T (p.Glu56Val) rs540203768 0.00005
NM_001100913.3(PACS2):c.1269-4A>G rs376690008 0.00005
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val) rs748538823 0.00005
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met) rs906425217 0.00005
NM_001365276.2(TNXB):c.7459C>T (p.Arg2487Cys) rs747880757 0.00005
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile) rs202095223 0.00005
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs) rs387906870 0.00005
NM_006279.5(ST3GAL3):c.502G>A (p.Val168Ile) rs758155830 0.00005
NM_014704.4(CEP104):c.583T>G (p.Ser195Ala) rs760840197 0.00005
NM_015087.5(SPART):c.466C>T (p.Pro156Ser) rs202174672 0.00005
NM_015466.4(PTPN23):c.4844G>A (p.Arg1615Gln) rs754863024 0.00005
NM_173354.5(SIK1):c.1294C>T (p.Arg432Trp) rs748371566 0.00005
NM_000143.4(FH):c.580G>A (p.Ala194Thr) rs587782215 0.00004
NM_000414.4(HSD17B4):c.1767+4T>C rs747282423 0.00004
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg) rs150361703 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_001322934.2(NFKB2):c.2042C>T (p.Pro681Leu) rs534798728 0.00004
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser) rs200604893 0.00004
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) rs567600444 0.00004
NM_005458.8(GABBR2):c.613G>A (p.Val205Ile) rs146801036 0.00004
NM_015295.3(SMCHD1):c.263A>G (p.Asp88Gly) rs200521548 0.00004
NM_018297.4(NGLY1):c.1249C>T (p.Leu417Phe) rs777927774 0.00004
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln) rs763697782 0.00004
NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg) rs773254902 0.00003
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638 0.00003
NM_002968.3(SALL1):c.3808G>A (p.Gly1270Arg) rs369070446 0.00003
NM_004533.4(MYBPC2):c.1522_1523dup (p.Phe510fs) rs764445302 0.00003
NM_007332.3(TRPA1):c.2520C>A (p.Tyr840Ter) rs753392383 0.00003
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn) rs201021919 0.00003
NM_020987.5(ANK3):c.1882G>A (p.Ala628Thr) rs540939855 0.00003
NM_022095.4(ZNF335):c.1508G>A (p.Arg503His) rs765260747 0.00003
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met) rs768752782 0.00003
NM_033100.4(CDHR1):c.628G>A (p.Val210Met) rs774747506 0.00003
NM_174878.3(CLRN1):c.356T>C (p.Phe119Ser) rs764099313 0.00003
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile) rs201487756 0.00003
NM_198053.3(CD247):c.58+8C>T rs201494226 0.00003
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691 0.00002
NM_000744.7(CHRNA4):c.640G>A (p.Ala214Thr) rs758348186 0.00002
NM_001004334.4(GPR179):c.274C>A (p.Pro92Thr) rs1331610447 0.00002
NM_001004334.4(GPR179):c.5627G>C (p.Trp1876Ser) rs1290248528 0.00002
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln) rs375182306 0.00002
NM_001375808.2(LPIN2):c.839G>A (p.Arg280Gln) rs749727482 0.00002
NM_001378120.1(MBD5):c.2627G>A (p.Gly876Glu) rs766460176 0.00002
NM_001386298.1(CIC):c.281A>G (p.Lys94Arg) rs539540626 0.00002
NM_001753.5(CAV1):c.407G>A (p.Ser136Asn) rs775940936 0.00002
NM_004230.4(S1PR2):c.985C>T (p.Arg329Cys) rs765378016 0.00002
NM_004369.4(COL6A3):c.1897+3A>G rs369549597 0.00002
NM_004994.3(MMP9):c.80C>T (p.Thr27Ile) rs201841087 0.00002
NM_007078.3(LDB3):c.47G>A (p.Arg16His) rs767986134 0.00002
NM_012452.3(TNFRSF13B):c.283C>G (p.Gln95Glu) rs549493928 0.00002
NM_016292.3(TRAP1):c.1204C>T (p.Arg402Trp) rs768200676 0.00002
NM_020549.5(CHAT):c.707C>T (p.Ala236Val) rs770250348 0.00002
NM_032977.4(CASP10):c.347+2T>G rs536573363 0.00002
NM_152296.5(ATP1A3):c.2418+3G>A rs782778060 0.00002
NM_000046.5(ARSB):c.74C>A (p.Pro25Gln) rs576541936 0.00001
NM_000070.3(CAPN3):c.2107C>T (p.Leu703Phe) rs751443759 0.00001
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr) rs137927542 0.00001
NM_000175.5(GPI):c.880G>A (p.Glu294Lys) rs560277140 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) rs730880619 0.00001
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445 0.00001
NM_000426.4(LAMA2):c.442C>T (p.Arg148Trp) rs752485547 0.00001
NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn) rs267599273 0.00001
NM_000702.4(ATP1A2):c.1577C>T (p.Pro526Leu) rs764078366 0.00001
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val) rs1458368988 0.00001
NM_001039141.3(TRIOBP):c.7073C>T (p.Ser2358Leu) rs750498327 0.00001
NM_001102564.3(IFT43):c.296-5697G>A rs756700836 0.00001
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) rs782791907 0.00001
NM_001127222.2(CACNA1A):c.2842C>T (p.Arg948Cys) rs16978975 0.00001
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg) rs748698544 0.00001
NM_001134407.3(GRIN2A):c.77C>T (p.Ala26Val) rs765986049 0.00001
NM_001146079.2(CLDN14):c.523C>T (p.Leu175Phe) rs760657763 0.00001
NM_001159.4(AOX1):c.1303G>T (p.Glu435Ter) rs1477876544 0.00001
NM_001163809.2(WDR81):c.2267G>A (p.Arg756Gln) rs1457395294 0.00001
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn) rs865860087 0.00001
NM_001242896.3(DEPDC5):c.4583G>A (p.Arg1528Gln) rs758757956 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001267550.2(TTN):c.313A>C (p.Asn105His) rs780972429 0.00001
NM_001363711.2(DUOX2):c.144C>A (p.His48Gln) rs779289206 0.00001
NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg) rs1392733763 0.00001
NM_001384474.1(LOXHD1):c.6526G>A (p.Val2176Met) rs745938801 0.00001
NM_001394062.1(MACF1):c.1817A>T (p.Asp606Val) rs1645798633 0.00001
NM_001395333.1(MTCL1):c.4420A>G (p.Lys1474Glu) rs868860974 0.00001
NM_001572.5(IRF7):c.709G>T (p.Gly237Trp) rs760665585 0.00001
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser) rs768542626 0.00001
NM_001875.5(CPS1):c.937A>G (p.Met313Val) rs587780323 0.00001
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886 0.00001
NM_002547.3(OPHN1):c.1139T>C (p.Met380Thr) rs770608210 0.00001
NM_002661.5(PLCG2):c.3393T>A (p.Phe1131Leu) rs754374903 0.00001
NM_002691.4(POLD1):c.1873G>A (p.Gly625Arg) rs1060501836 0.00001
NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met) rs780956310 0.00001
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn) rs201693189 0.00001
NM_005026.5(PIK3CD):c.1955+5C>T rs201785210 0.00001
NM_005045.4(RELN):c.673T>G (p.Cys225Gly) rs371731772 0.00001
NM_005488.3(TOM1):c.53-8C>A rs555423294 0.00001
NM_005720.4(ARPC1B):c.713C>T (p.Ala238Val) rs369966813 0.00001
NM_006157.5(NELL1):c.854C>G (p.Ser285Cys) rs766019151 0.00001
NM_006922.4(SCN3A):c.1966T>G (p.Leu656Val) rs764003738 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015102.5(NPHP4):c.2719G>A (p.Glu907Lys) rs1310354413 0.00001
NM_015178.3(RHOBTB2):c.508C>T (p.Pro170Ser) rs761440038 0.00001
NM_015274.3(MAN2B2):c.138+1G>A rs536839038 0.00001
NM_015443.4(KANSL1):c.3011C>T (p.Pro1004Leu) rs573432386 0.00001
NM_016030.6(TRAPPC12):c.1603+5G>C rs747491323 0.00001
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile) rs1398724919 0.00001
NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp) rs200670286 0.00001
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys) rs549477447 0.00001
NM_018194.6(HHAT):c.1436A>G (p.Tyr479Cys) rs1389282522 0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 0.00001
NM_020533.3(MCOLN1):c.1208G>A (p.Arg403His) rs1248175158 0.00001
NM_020975.6(RET):c.2018A>C (p.Glu673Ala) rs770100231 0.00001
NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp) rs879253769 0.00001
NM_022481.6(ARAP3):c.2086C>G (p.Pro696Ala) rs1230022777 0.00001
NM_024740.2(ALG9):c.879T>G (p.His293Gln) rs1285072714 0.00001
NM_024783.4(AGBL2):c.619C>T (p.Gln207Ter) rs766879154 0.00001
NM_033004.4(NLRP1):c.3248C>T (p.Thr1083Met) rs756567220 0.00001
NM_033132.5(ZIC5):c.211C>T (p.His71Tyr) rs1314711909 0.00001
NM_152268.4(PARS2):c.706A>G (p.Lys236Glu) rs1301028412 0.00001
NM_152906.7(TANGO2):c.703G>A (p.Gly235Ser) rs771969240 0.00001
NM_182706.5(SCRIB):c.766C>T (p.Arg256Trp) rs766529502 0.00001
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp) rs764235096 0.00001
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=) rs866899109 0.00001
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_000064.4(C3):c.3478G>A (p.Glu1160Lys)
NM_000079.4(CHRNA1):c.670C>T (p.His224Tyr)
NM_000081.4(LYST):c.5634+11A>G
NM_000089.4(COL1A2):c.896A>C (p.Asn299Thr) rs2115893108
NM_000091.5(COL4A3):c.1418G>A (p.Gly473Asp)
NM_000098.3(CPT2):c.578G>A (p.Arg193His) rs765824169
NM_000130.5(F5):c.5959T>C (p.Ser1987Pro) rs1174590593
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu) rs780212338
NM_000168.6(GLI3):c.3098C>A (p.Pro1033Gln) rs376956433
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000278.5(PAX2):c.*20A>T
NM_000291.4(PGK1):c.1043T>G (p.Phe348Cys) rs2149137029
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile) rs2147981456
NM_000326.5(RLBP1):c.-223-1G>A rs1032783403
NM_000330.4(RS1):c.52+3A>G rs2147209764
NM_000334.4(SCN4A):c.4382T>G (p.Leu1461Arg) rs2144774799
NM_000343.4(SLC5A1):c.437C>T (p.Ser146Phe)
NM_000368.5(TSC1):c.1066A>G (p.Thr356Ala) rs2131962146
NM_000397.4(CYBB):c.1390C>A (p.Gln464Lys)
NM_000431.4(MVK):c.733G>T (p.Ala245Ser) rs2136245024
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000492.4(CFTR):c.640C>G (p.Leu214Val) rs188457893
NM_000503.6(EYA1):c.1051-5T>G rs2128904621
NM_000506.5(F2):c.650G>A (p.Arg217Gln)
NM_000508.5(FGA):c.2350C>T (p.Gln784Ter) rs148824832
NM_000525.4(KCNJ11):c.629T>C (p.Ile210Thr) rs2133379868
NM_000540.3(RYR1):c.13213G>A (p.Gly4405Ser)
NM_000540.3(RYR1):c.2335G>A (p.Val779Ile)
NM_000542.5(SFTPB):c.68-8A>G
NM_000548.5(TSC2):c.379A>G (p.Ile127Val) rs1207714822
NM_000719.7(CACNA1C):c.2854-11C>G rs2153406175
NM_000744.7(CHRNA4):c.639_640inv (p.Ala214Thr)
NM_000760.4(CSF3R):c.1931G>A (p.Gly644Glu)
NM_000834.5(GRIN2B):c.411+4A>C
NM_001004320.2(AGMO):c.1263+1dup rs780799912
NM_001005273.3(CHD3):c.812G>T (p.Arg271Leu) rs746970749
NM_001008216.2(GALE):c.889G>A (p.Val297Met)
NM_001017995.3(SH3PXD2B):c.2626_2629del (p.Phe876fs) rs551498843
NM_001029883.3(PCARE):c.2938C>T (p.Pro980Ser) rs2148415249
NM_001031679.3(MSRB3):c.-51-1502G>A rs2136420609
NM_001035.3(RYR2):c.13901T>C (p.Val4634Ala) rs1384324063
NM_001036.6(RYR3):c.12742A>G (p.Met4248Val) rs771512839
NM_001039141.3(TRIOBP):c.1685C>G (p.Ser562Cys) rs747588173
NM_001039141.3(TRIOBP):c.5422A>G (p.Lys1808Glu) rs2145866277
NM_001040272.6(ADAMTSL1):c.2902G>A (p.Val968Met) rs1446307679
NM_001046.3(SLC12A2):c.80_103del (p.Leu27_Leu34del)
NM_001048166.1(STIL):c.2452A>G (p.Thr818Ala) rs1279650779
NM_001080517.3(SETD5):c.358C>T (p.Leu120Phe) rs2125100487
NM_001085.5(SERPINA3):c.927_928insTTCTA (p.Glu310delinsPheTer) rs2139965322
NM_001114748.2(TMEM240):c.457G>A (p.Gly153Arg)
NM_001122630.2(CDKN1C):c.842C>T (p.Pro281Leu)
NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp) rs541789117
NM_001128840.3(CACNA1D):c.4792+3C>T
NM_001130438.3(SPTAN1):c.5725G>A (p.Ala1909Thr)
NM_001130987.2(DYSF):c.5056C>T (p.Leu1686Phe)
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) rs1977160529
NM_001144967.3(NEDD4L):c.23C>T (p.Pro8Leu) rs375577826
NM_001144967.3(NEDD4L):c.847G>C (p.Ala283Pro) rs1408580789
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro) rs1215273187
NM_001170535.3(ATAD3A):c.1045C>G (p.Leu349Val) rs372111873
NM_001195.5(BFSP1):c.1438G>T (p.Val480Leu) rs767136257
NM_001195518.2(MICU1):c.330+3A>G
NM_001197104.2(KMT2A):c.172C>G (p.Pro58Ala) rs1217431375
NM_001253852.3(AP4B1):c.1494G>C (p.Leu498Phe) rs1440975141
NM_001258329.1(EPB41L1):c.-15+11729G>A rs2147709505
NM_001267550.2(TTN):c.10684G>A (p.Ala3562Thr) rs2154335125
NM_001267550.2(TTN):c.29725C>A (p.Gln9909Lys)
NM_001267550.2(TTN):c.29978G>A (p.Arg9993Gln) rs575360239
NM_001267550.2(TTN):c.57899C>A (p.Thr19300Asn) rs979451740
NM_001278716.2(FBXL4):c.1784G>C (p.Cys595Ser) rs2128374842
NM_001282531.3(ADNP):c.2749C>G (p.Pro917Ala) rs142988030
NM_001282874.2(SMARCA1):c.916C>T (p.Arg306Ter)
NM_001348768.2(HECW2):c.206C>T (p.Thr69Met)
NM_001352027.3(PHF21A):c.467T>C (p.Ile156Thr) rs2136079893
NM_001363.5(DKC1):c.1429AAG[1] (p.Lys478del) rs2148517599
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001371727.1(GABRB2):c.1334G>T (p.Gly445Val)
NM_001371928.1(AHDC1):c.1926G>C (p.Glu642Asp) rs761320400
NM_001372066.1(TFAP2A):c.581C>T (p.Ala194Val) rs2114014890
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2] rs60484081
NM_001374736.1(DST):c.16607A>C (p.Lys5536Thr) rs766451991
NM_001376.5(DYNC1H1):c.11992C>T (p.Pro3998Ser) rs2152596268
NM_001377405.1(ATXN7):c.2245dup (p.Thr749fs)
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) rs606231461
NM_001384125.1(BLTP1):c.148C>T (p.Arg50Trp) rs1735635931
NM_001384140.1(PCDH15):c.4672-1712_4672-1710del rs2132368553
NM_001384474.1(LOXHD1):c.3712G>A (p.Asp1238Asn) rs2144370861
NM_001385875.1(ZFYVE27):c.551+1G>A
NM_001388492.1(HTT):c.54GCA[22] (p.Gln36_Gln38dup) rs71180116
NM_001394062.1(MACF1):c.15701A>C (p.Tyr5234Ser)
NM_001429.4(EP300):c.4453G>T (p.Asp1485Tyr) rs2145769934
NM_001447.3(FAT2):c.1521T>G (p.Ile507Met) rs1758328376
NM_001447.3(FAT2):c.2891T>C (p.Leu964Pro)
NM_001567.4(INPPL1):c.2326+9C>T rs370540380
NM_001605.3(AARS1):c.877A>T (p.Met293Leu)
NM_001631.5(ALPI):c.895C>T (p.Arg299Ter)
NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del) rs60216939
NM_002055.5(GFAP):c.253G>A (p.Glu85Lys)
NM_002334.4(LRP4):c.5504dup (p.Leu1836fs)
NM_002336.3(LRP6):c.4377dup (p.Tyr1460fs)
NM_002473.6(MYH9):c.1306G>A (p.Ala436Thr) rs770360786
NM_002637.4(PHKA1):c.1282C>T (p.Arg428Cys) rs2147757116
NM_002745.5(MAPK1):c.5CGG[8] (p.Ala7_Gly8insAlaAla)
NM_002860.4(ALDH18A1):c.1237G>C (p.Glu413Gln) rs147348068
NM_002872.5(RAC2):c.328A>G (p.Ile110Val) rs1248326902
NM_002900.3(RBP3):c.1733C>A (p.Thr578Lys) rs782234227
NM_003072.5(SMARCA4):c.2014G>C (p.Glu672Gln) rs2088394203
NM_003477.2(PDHX):c.-178T>C rs2133931431
NM_003578.4(SOAT2):c.1017_1020del (p.Ile340fs) rs757442410
NM_003661.4(APOL1):c.1048G>A (p.Val350Ile) rs2146313032
NM_004327.4(BCR):c.3275_3278dup (p.Val1094fs) rs372013175
NM_004369.4(COL6A3):c.7655T>A (p.Ile2552Asn)
NM_004369.4(COL6A3):c.8278C>G (p.Leu2760Val)
NM_004462.5(FDFT1):c.100-84TCCCAC[11] rs71711801
NM_004530.6(MMP2):c.1013C>T (p.Ser338Phe) rs1962350616
NM_004560.4(ROR2):c.362G>A (p.Arg121Gln) rs1377209414
NM_004937.3(CTNS):c.1062C>A (p.Phe354Leu) rs762508287
NM_004975.4(KCNB1):c.1883G>A (p.Gly628Glu)
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_005026.5(PIK3CD):c.1339+4G>A rs751591906
NM_005029.4(PITX3):c.88G>A (p.Glu30Lys) rs2133799119
NM_005045.4(RELN):c.6549A>C (p.Leu2183Phe)
NM_005045.4(RELN):c.669C>G (p.Asn223Lys) rs773006128
NM_005523.6(HOXA11):c.679G>C (p.Gly227Arg)
NM_005534.4(IFNGR2):c.529G>A (p.Val177Ile)
NM_005591.4(MRE11):c.835G>C (p.Ala279Pro) rs147383852
NM_005866.4(SIGMAR1):c.270G>A (p.Met90Ile)
NM_005904.4(SMAD7):c.625C>A (p.Pro209Thr) rs551446649
NM_006005.3(WFS1):c.2601G>C (p.Trp867Cys) rs2109127911
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT rs879243445
NM_006440.5(TXNRD2):c.528+2T>C rs775856560
NM_006514.4(SCN10A):c.4210T>G (p.Phe1404Val)
NM_006580.4(CLDN16):c.466C>A (p.Leu156Ile) rs1170178042
NM_006612.6(KIF1C):c.3028A>G (p.Thr1010Ala)
NM_006612.6(KIF1C):c.3081C>A (p.His1027Gln) rs752457302
NM_006736.6(DNAJB2):c.154G>A (p.Ala52Thr)
NM_006908.5(RAC1):c.23_35+12dup rs2115177185
NM_007118.4(TRIO):c.157+3G>A
NM_007118.4(TRIO):c.8798A>G (p.Lys2933Arg)
NM_012120.3(CD2AP):c.1583C>T (p.Ala528Val)
NM_012179.4(FBXO7):c.674C>T (p.Pro225Leu) rs112660869
NM_012216.4(MID2):c.373A>G (p.Thr125Ala) rs1931331739
NM_013266.4(CTNNA3):c.2375T>C (p.Leu792Pro) rs2133257020
NM_013275.6(ANKRD11):c.5357A>G (p.Asn1786Ser)
NM_013352.4(DSE):c.2482del (p.Gln828fs) rs2115098611
NM_013391.3(DMGDH):c.696del (p.Glu233fs) rs2112659102
NM_014159.7(SETD2):c.7346T>C (p.Met2449Thr) rs559045162
NM_014297.5(ETHE1):c.205_210dup (p.Gly69_Leu70dup) rs2146019590
NM_014491.4(FOXP2):c.1436A>T (p.His479Leu)
NM_014624.4(S100A6):c.181del (p.Asp61fs) rs2101678002
NM_014704.4(CEP104):c.485A>G (p.Asn162Ser) rs867268929
NM_014956.5(CEP164):c.717G>C (p.Arg239Ser) rs1335434297
NM_015021.3(ZNF292):c.6758_6760del (p.Asp2253del) rs1775501579
NM_015087.5(SPART):c.1643G>A (p.Gly548Glu)
NM_015340.4(LARS2):c.2285C>A (p.Ala762Asp) rs868411376
NM_015346.4(ZFYVE26):c.1293T>A (p.Asp431Glu) rs747236724
NM_015346.4(ZFYVE26):c.1838T>G (p.Leu613Trp) rs758520387
NM_015404.4(WHRN):c.919A>G (p.Thr307Ala) rs2132955317
NM_015512.5(DNAH1):c.12089+9C>T
NM_015512.5(DNAH1):c.3595G>A (p.Asp1199Asn)
NM_015527.4(TBC1D10B):c.1773G>A (p.Met591Ile) rs2151100398
NM_015599.3(PGM3):c.1094T>C (p.Ile365Thr)
NM_016239.4(MYO15A):c.3620T>C (p.Ile1207Thr) rs1365097671
NM_016252.4(BIRC6):c.7591T>G (p.Tyr2531Asp)
NM_016327.3(UPB1):c.5C>G (p.Ala2Gly) rs764932232
NM_017654.4(SAMD9):c.3059C>T (p.Thr1020Ile) rs1039989488
NM_018359.5(UFSP2):c.1376A>C (p.Asn459Thr)
NM_018946.4(NANS):c.452G>A (p.Arg151His) rs140402727
NM_020131.5(UBQLN4):c.931G>A (p.Gly311Arg) rs2102746827
NM_020859.4(SHROOM3):c.4204G>T (p.Gly1402Cys) rs749960760
NM_020884.7(MYH7B):c.198+1G>T rs375392993
NM_021224.6(ZNF462):c.5456C>G (p.Thr1819Arg) rs779356446
NM_021942.6(TRAPPC11):c.161A>G (p.Lys54Arg) rs1734710360
NM_021942.6(TRAPPC11):c.2234C>T (p.Thr745Ile) rs768000138
NM_022089.4(ATP13A2):c.1649C>A (p.Pro550His) rs1379076892
NM_022168.4(IFIH1):c.1764del (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.769+3A>G rs769979161
NM_022168.4(IFIH1):c.875-1G>C rs1682933667
NM_024301.5(FKRP):c.649C>A (p.Pro217Thr) rs2122620422
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys) rs142331975
NM_024580.6(EFL1):c.2902G>T (p.Ala968Ser) rs377682013
NM_024884.3(L2HGDH):c.41G>A (p.Arg14Gln) rs776223095
NM_025137.4(SPG11):c.1735+4A>G rs2141056546
NM_025137.4(SPG11):c.1906C>G (p.Leu636Val) rs145316065
NM_030662.4(MAP2K2):c.520A>G (p.Ser174Gly)
NM_030665.4(RAI1):c.2589G>C (p.Glu863Asp)
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_032119.4(ADGRV1):c.514A>T (p.Ile172Phe) rs2152065480
NM_032776.3(JMJD1C):c.803A>T (p.Gln268Leu) rs757837342
NM_033004.4(NLRP1):c.1733G>T (p.Gly578Val) rs763921064
NM_133261.3(GIPC3):c.680G>A (p.Gly227Glu) rs756451615
NM_133642.5(LARGE1):c.500C>G (p.Pro167Arg)
NM_138713.4(NFAT5):c.3145A>G (p.Met1049Val)
NM_138927.4(SON):c.5943_5963del (p.1957SRTPSRR[5]) rs766784590
NM_138959.3(VANGL1):c.497G>A (p.Gly166Glu) rs1652670247
NM_144499.3(GNAT1):c.450-11G>T rs2109139018
NM_144670.6(A2ML1):c.3701del (p.Gly1234fs)
NM_144687.4(NLRP12):c.2619T>G (p.Cys873Trp)
NM_145239.3(PRRT2):c.745T>C (p.Ser249Pro) rs944092875
NM_145239.3(PRRT2):c.891C>G (p.Ser297Arg) rs1900136032
NM_147188.3(FBXO22):c.159_162del (p.Arg53fs) rs2141698833
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg) rs1769920763
NM_152259.4(TICRR):c.4237A>C (p.Ser1413Arg) rs1963480723
NM_153046.3(TDRD9):c.2106+2T>A rs2152222013
NM_170606.3(KMT2C):c.1013-2A>G rs751158858
NM_170606.3(KMT2C):c.3466G>A (p.Val1156Ile)
NM_170707.4(LMNA):c.112C>T (p.Leu38Phe) rs2102817550
NM_173354.5(SIK1):c.2126T>C (p.Leu709Pro)
NM_177550.5(SLC13A5):c.1178C>T (p.Pro393Leu) rs1973458109
NM_178012.5(TUBB2B):c.743C>T (p.Ala248Val) rs777598117
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_182961.4(SYNE1):c.13391A>G (p.Gln4464Arg) rs2153973584
NM_182961.4(SYNE1):c.13861A>G (p.Thr4621Ala)
NM_182961.4(SYNE1):c.17603G>A (p.Gly5868Glu) rs2153809671
NM_182961.4(SYNE1):c.5369C>T (p.Thr1790Ile) rs1554666956
NM_182977.3(NNT):c.188A>T (p.Lys63Ile)
NM_198407.2(GHSR):c.422G>T (p.Arg141Leu) rs199698243
NM_198525.3(KIF7):c.401A>G (p.Asn134Ser) rs922869195
NM_199242.3(UNC13D):c.1820G>A (p.Arg607Gln)
NM_201253.3(CRB1):c.2573A>G (p.Asn858Ser) rs2125485150
NM_203446.3(SYNJ1):c.85G>A (p.Glu29Lys)

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