ClinVar Miner

List of variants reported as uncertain significance by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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ClinVar version:
Total variants: 365
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_001372.4(DNAH9):c.12640G>T (p.Gly4214Cys) rs144547132 0.00180
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001098511.3(KIF2A):c.382T>C (p.Ser128Pro) rs138408434 0.00067
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) rs146326769 0.00065
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063 0.00032
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_006129.5(BMP1):c.2446C>G (p.Pro816Ala) rs150161793 0.00018
NM_006205.3(PDE6H):c.237G>C (p.Gln79His) rs564659543 0.00016
NM_001346022.3(USP45):c.1636A>T (p.Lys546Ter) rs189281869 0.00013
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met) rs767795351 0.00011
NM_001160148.2(DDHD1):c.340T>C (p.Ser114Pro) rs756788863 0.00011
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000312.4(PROC):c.113G>A (p.Arg38Gln) rs773107370 0.00010
NM_020461.4(TUBGCP6):c.1340T>C (p.Val447Ala) rs985345843 0.00009
NM_001792.5(CDH2):c.893A>G (p.Asn298Ser) rs200798903 0.00008
NM_006941.4(SOX10):c.644G>A (p.Arg215Gln) rs779933527 0.00007
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr) rs782640594 0.00007
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) rs569364202 0.00006
NM_018105.3(THAP1):c.427A>G (p.Met143Val) rs374512193 0.00006
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys) rs770860280 0.00005
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile) rs768180795 0.00005
NM_003718.5(CDK13):c.4097G>A (p.Arg1366His) rs3801237 0.00005
NM_000048.4(ASL):c.1358G>A (p.Arg453His) rs762805462 0.00004
NM_000829.4(GRIA4):c.2615G>A (p.Arg872His) rs756483110 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter) rs370678173 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr) rs764516811 0.00004
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln) rs573456864 0.00003
NM_001199138.2(NLRC4):c.2728G>A (p.Val910Ile) rs144418059 0.00003
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) rs755505546 0.00003
NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile) rs369949841 0.00003
NM_006767.4(LZTR1):c.1610G>A (p.Arg537Gln) rs769150226 0.00003
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp) rs781335672 0.00002
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00002
NM_000363.5(TNNI3):c.143A>C (p.Gln48Pro) rs200720341 0.00002
NM_000455.5(STK11):c.463G>T (p.Gly155Trp) rs763353991 0.00002
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919 0.00002
NM_003361.4(UMOD):c.1360G>A (p.Gly454Ser) rs774173431 0.00002
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) rs747082651 0.00002
NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr) rs758680191 0.00002
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301 0.00001
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val) rs755433765 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met) rs377393431 0.00001
NM_000492.4(CFTR):c.3468+6T>C rs547442588 0.00001
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781 0.00001
NM_000531.6(OTC):c.368G>A (p.Ser123Asn) rs776830576 0.00001
NM_001039591.3(USP9X):c.7461A>C (p.Glu2487Asp) rs769126922 0.00001
NM_001040142.2(SCN2A):c.5726C>T (p.Ala1909Val) rs772819993 0.00001
NM_001235.5(SERPINH1):c.1214G>A (p.Arg405His) rs781125078 0.00001
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln) rs775080915 0.00001
NM_001257291.2(SLC9A7):c.1520G>A (p.Arg507His) rs1231947331 0.00001
NM_001273.5(CHD4):c.4756A>G (p.Thr1586Ala) rs1366977058 0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630 0.00001
NM_001365276.2(TNXB):c.3002C>T (p.Pro1001Leu) rs768607753 0.00001
NM_001365951.3(KIF1B):c.4922C>T (p.Ser1641Phe) rs748589511 0.00001
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp) rs574115531 0.00001
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His) rs776520014 0.00001
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln) rs757161476 0.00001
NM_002641.4(PIGA):c.247C>G (p.Leu83Val) rs1335237092 0.00001
NM_002778.4(PSAP):c.875T>G (p.Val292Gly) rs758866050 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_004360.5(CDH1):c.781G>A (p.Glu261Lys) rs121964873 0.00001
NM_004519.4(KCNQ3):c.1552G>A (p.Ala518Thr) rs745463637 0.00001
NM_006015.6(ARID1A):c.4783A>G (p.Met1595Val) rs1463725053 0.00001
NM_006545.5(NPRL2):c.661C>T (p.Arg221Cys) rs751736902 0.00001
NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met) rs369469000 0.00001
NM_007118.4(TRIO):c.3559A>G (p.Ile1187Val) rs950757813 0.00001
NM_013275.6(ANKRD11):c.274C>T (p.Arg92Trp) rs1482187297 0.00001
NM_014141.6(CNTNAP2):c.3047G>A (p.Arg1016Gln) rs143879959 0.00001
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr) rs730881187 0.00001
NM_018417.6(ADCY10):c.1401G>C (p.Glu467Asp) rs761630756 0.00001
NM_031157.4(HNRNPA1):c.1099G>A (p.Gly367Ser) rs772603507 0.00001
NM_031407.7(HUWE1):c.5441A>G (p.Asn1814Ser) rs1556970140 0.00001
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln) rs779998311 0.00001
NM_145239.3(PRRT2):c.839T>C (p.Met280Thr) rs1419914220 0.00001
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly) rs765427429 0.00001
NC_000007.14:g.(154772943_154794078)_(154894712_?)dup
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del) rs1595026031
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
NM_000031.6(ALAD):c.520C>T (p.Arg174Cys) rs758622234
NM_000038.6(APC):c.1820G>C (p.Cys607Ser) rs1554083153
NM_000046.5(ARSB):c.1291G>C (p.Ala431Pro)
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe) rs747242300
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.6324G>T (p.Gln2108His) rs2136169496
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.4(BRCA2):c.6952C>G (p.Arg2318Gly) rs80358920
NM_000064.4(C3):c.1125C>A (p.Phe375Leu)
NM_000070.3(CAPN3):c.266A>G (p.Tyr89Cys)
NM_000089.4(COL1A2):c.1145G>T (p.Gly382Val)
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met) rs1339426358
NM_000094.4(COL7A1):c.4237_4241delinsACAGA (p.Pro1413_Gly1414delinsThrAsp)
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)
NM_000142.5(FGFR3):c.200G>C (p.Gly67Ala) rs369232922
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro) rs1337100943
NM_000153.4(GALC):c.1350C>G (p.Ser450Arg)
NM_000157.4(GBA1):c.835C>G (p.Leu279Val) rs1057519020
NM_000179.3(MSH6):c.2365A>C (p.Asn789His) rs2104402954
NM_000198.4(HSD3B2):c.611C>A (p.Ala204Asp)
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg) rs1434209913
NM_000202.8(IDS):c.470C>G (p.Pro157Arg)
NM_000202.8(IDS):c.482C>T (p.Ser161Phe)
NM_000249.4(MLH1):c.200G>T (p.Gly67Val) rs63749939
NM_000249.4(MLH1):c.884+6G>A rs1575496158
NM_000257.4(MYH7):c.2596T>C (p.Ser866Pro) rs1892629291
NM_000263.4(NAGLU):c.95T>C (p.Val32Ala)
NM_000271.5(NPC1):c.1408G>C (p.Ala470Pro)
NM_000271.5(NPC1):c.2509A>G (p.Ile837Val) rs756239485
NM_000283.4(PDE6B):c.2117A>T (p.Lys706Met)
NM_000297.4(PKD2):c.1129A>C (p.Ser377Arg)
NM_000316.3(PTH1R):c.617T>C (p.Val206Ala) rs2031894011
NM_000329.3(RPE65):c.644-5T>A rs2100819923
NM_000345.4(SNCA):c.391-14T>C
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000404.4(GLB1):c.253C>A (p.Pro85Thr) rs1575472038
NM_000404.4(GLB1):c.495_497del (p.Leu166del) rs754077128
NM_000404.4(GLB1):c.545C>G (p.Thr182Arg) rs758577863
NM_000424.4(KRT5):c.504G>C (p.Glu168Asp)
NM_000430.4(PAFAH1B1):c.118-11_118-7del rs1555526298
NM_000435.3(NOTCH3):c.5081G>A (p.Arg1694Gln)
NM_000451.4(SHOX):c.547G>C (p.Val183Leu)
NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser)
NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn) rs782785569
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000531.6(OTC):c.125T>A (p.Leu42His)
NM_000540.3(RYR1):c.10958T>A (p.Phe3653Tyr) rs2145723708
NM_000548.5(TSC2):c.1258G>C (p.Glu420Gln)
NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg)
NM_000557.5(GDF5):c.1111G>T (p.Glu371Ter)
NM_000751.3(CHRND):c.497C>T (p.Ser166Phe) rs528286132
NM_000814.6(GABRB3):c.1280A>G (p.His427Arg)
NM_000829.4(GRIA4):c.919G>A (p.Val307Met)
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser) rs1299106178
NM_001039770.3(TMPPE):c.-398_-397del
NM_001040108.2(MLH3):c.2312A>T (p.Glu771Val)
NM_001042492.3(NF1):c.2761G>A (p.Val921Met) rs567023433
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg) rs1060500344
NM_001042702.5(PJVK):c.370G>A (p.Val124Met)
NM_001080414.4(CCDC88C):c.161+5G>A rs1887078001
NM_001080414.4(CCDC88C):c.6035C>T (p.Pro2012Leu) rs771028975
NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)
NM_001089.3(ABCA3):c.1136G>A (p.Gly379Asp) rs2093701667
NM_001100913.3(PACS2):c.369C>A (p.Asn123Lys) rs1435095726
NM_001103.4(ACTN2):c.937A>T (p.Met313Leu)
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr) rs2148661028
NM_001127178.3(PIGG):c.1830T>A (p.Cys610Ter) rs1560343436
NM_001127222.2(CACNA1A):c.4471G>A (p.Val1491Ile)
NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala) rs1351010453
NM_001128.6(AP1G1):c.1621G>C (p.Val541Leu)
NM_001128840.3(CACNA1D):c.3455T>C (p.Ile1152Thr) rs2108865550
NM_001130987.2(DYSF):c.1493+2dup rs753885022
NM_001136157.2(OTUD5):c.655A>G (p.Lys219Glu)
NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu)
NM_001160148.2(DDHD1):c.53GCG[6] (p.Gly22dup) rs752119831
NM_001162501.2(TNRC6B):c.4286G>A (p.Arg1429Gln)
NM_001162501.2(TNRC6B):c.865G>T (p.Gly289Cys)
NM_001164508.2(NEB):c.21302T>G (p.Leu7101Trp)
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp) rs1057518671
NM_001165963.4(SCN1A):c.602+1G>A
NM_001199753.2(CPT1C):c.2002T>C (p.Ser668Pro)
NM_001205293.3(CACNA1E):c.6248G>A (p.Arg2083Gln) rs758936777
NM_001242896.3(DEPDC5):c.2242A>G (p.Thr748Ala)
NM_001242896.3(DEPDC5):c.2500C>T (p.Pro834Ser) rs1370595536
NM_001257293.2(HNRNPH1):c.1117+19G>A
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
NM_001270.4(CHD1):c.4712C>G (p.Ser1571Cys)
NM_001270974.2(HYDIN):c.373A>T (p.Asn125Tyr)
NM_001270974.2(HYDIN):c.5152G>A (p.Val1718Met)
NM_001281740.3(FHOD3):c.1646+1G>A rs2036163874
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg) rs1555465003
NM_001291415.2(KDM6A):c.3886C>T (p.Leu1296Phe)
NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe) rs1555938741
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys) rs140892695
NM_001330700.2(TOP2B):c.3940G>C (p.Val1314Leu) rs2125351347
NM_001348768.2(HECW2):c.1016T>C (p.Leu339Pro)
NM_001348768.2(HECW2):c.2059G>A (p.Glu687Lys) rs762015382
NM_001353345.2(SETD1B):c.89G>A (p.Arg30Lys)
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys) rs387906471
NM_001365536.1(SCN9A):c.1844A>G (p.Asn615Ser) rs780995899
NM_001367721.1(CASK):c.1941G>C (p.Gln647His)
NM_001368809.2(AMPD2):c.2158G>T (p.Glu720Ter)
NM_001369268.1(ACAN):c.1817C>G (p.Ala606Gly) rs757476544
NM_001369268.1(ACAN):c.5674C>T (p.Pro1892Ser)
NM_001371596.2(MFSD8):c.268G>C (p.Ala90Pro) rs1553950970
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_001371623.1(TCOF1):c.1340C>G (p.Pro447Arg)
NM_001372.4(DNAH9):c.12047A>G (p.Asn4016Ser)
NM_001378418.1(TCF20):c.4187G>A (p.Gly1396Glu) rs774041838
NM_001378454.1(ALMS1):c.11326C>T (p.His3776Tyr) rs2104107559
NM_001378457.1(DMXL2):c.2763A>T (p.Leu921Phe)
NM_001378457.1(DMXL2):c.6247G>A (p.Ala2083Thr) rs778580507
NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr) rs962629988
NM_001378969.1(KCND3):c.257G>A (p.Arg86Gln) rs1571941606
NM_001384140.1(PCDH15):c.1987C>G (p.Leu663Val)
NM_001384140.1(PCDH15):c.4671+1393G>C
NM_001386298.1(CIC):c.3928T>C (p.Phe1310Leu)
NM_001386298.1(CIC):c.4273G>A (p.Gly1425Arg)
NM_001386298.1(CIC):c.6484G>T (p.Ala2162Ser)
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg) rs2146859529
NM_001386993.1(CTCFL):c.1159C>T (p.Arg387Cys)
NM_001388453.1(QRICH2):c.4306G>A (p.Val1436Met)
NM_001393769.1(MED12L):c.5867C>G (p.Pro1956Arg)
NM_001394372.1(BICRA):c.145C>T (p.Pro49Ser)
NM_001395159.1(UNC79):c.5702T>C (p.Phe1901Ser) rs774688629
NM_001458.5(FLNC):c.7087G>A (p.Asp2363Asn) rs1554401490
NM_001614.5(ACTG1):c.484A>G (p.Thr162Ala)
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002335.4(LRP5):c.4488G>A (p.Pro1496=) rs1565118560
NM_002354.3(EPCAM):c.214G>A (p.Glu72Lys)
NM_002599.5(PDE2A):c.144+11147C>T
NM_002599.5(PDE2A):c.614C>T (p.Ala205Val)
NM_002615.7(SERPINF1):c.277T>C (p.Ser93Pro)
NM_002887.4(RARS1):c.1662_1663delinsTT (p.Met554_Leu555delinsIlePhe)
NM_002968.3(SALL1):c.1775A>G (p.Lys592Arg) rs2143444520
NM_003072.5(SMARCA4):c.4904A>G (p.Gln1635Arg) rs1568566518
NM_003124.5(SPR):c.57C>G (p.Phe19Leu) rs774659668
NM_003322.6(TULP1):c.647C>T (p.Ala216Val) rs754221623
NM_003403.5(YY1):c.430G>A (p.Asp144Asn) rs770164761
NM_003579.4(RAD54L):c.1250C>T (p.Thr417Ile)
NM_003722.5(TP63):c.1570G>A (p.Ala524Thr) rs1403304957
NM_003742.4(ABCB11):c.1361T>G (p.Val454Gly) rs1558898919
NM_003742.4(ABCB11):c.1523T>C (p.Phe508Ser)
NM_003742.4(ABCB11):c.3557A>G (p.Glu1186Gly)
NM_003748.4(ALDH4A1):c.658G>C (p.Ala220Pro) rs778113718
NM_003849.4(SUCLG1):c.443C>T (p.Pro148Leu) rs1331661730
NM_003849.4(SUCLG1):c.512A>G (p.Asn171Ser) rs765519303
NM_004370.6(COL12A1):c.1232C>A (p.Thr411Lys) rs2149467046
NM_004380.3(CREBBP):c.6121T>C (p.Ser2041Pro)
NM_004380.3(CREBBP):c.7010C>T (p.Thr2337Met)
NM_004380.3(CREBBP):c.7156G>A (p.Gly2386Arg)
NM_004493.3(HSD17B10):c.660A>C (p.Gln220His) rs1602426334
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_004977.3(KCNC3):c.1850C>T (p.Pro617Leu) rs1284948650
NM_005055.5(RAPSN):c.1045G>A (p.Val349Ile)
NM_005120.3(MED12):c.823C>G (p.Leu275Val) rs2147778826
NM_005602.6(CLDN11):c.232G>A (p.Val78Met)
NM_005634.3(SOX3):c.64C>G (p.Arg22Gly)
NM_005778.4(RBM5):c.853A>G (p.Met285Val)
NM_005862.3(STAG1):c.1353A>T (p.Leu451Phe)
NM_006031.6(PCNT):c.5905C>T (p.Arg1969Cys)
NM_006129.5(BMP1):c.820C>G (p.Arg274Gly)
NM_006383.4(CIB2):c.9C>G (p.Asn3Lys)
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006531.5(IFT88):c.1037C>T (p.Pro346Leu)
NM_006593.4(TBR1):c.1771G>A (p.Ala591Thr)
NM_006593.4(TBR1):c.284A>G (p.His95Arg) rs2105278281
NM_006662.3(SRCAP):c.6710A>C (p.Gln2237Pro)
NM_006757.4(TNNT3):c.299G>A (p.Arg100His)
NM_006766.5(KAT6A):c.3670_3672del (p.Lys1224del)
NM_006767.4(LZTR1):c.370G>A (p.Val124Ile)
NM_006939.4(SOS2):c.3303T>G (p.Ser1101Arg) rs1317870927
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)
NM_007009.3(ZPBP):c.557A>G (p.Tyr186Cys)
NM_007118.4(TRIO):c.3935G>A (p.Arg1312Gln)
NM_007118.4(TRIO):c.6968G>A (p.Gly2323Asp)
NM_007118.4(TRIO):c.7294_7295delinsAA (p.Ala2432Asn)
NM_007192.4(SUPT16H):c.2617G>A (p.Ala873Thr)
NM_012156.2(EPB41L1):c.1982T>C (p.Leu661Pro)
NM_012179.3(FBXO7):c.[274G>C];[520T>A]
NM_012470.4(TNPO3):c.1359-19A>G
NM_014112.5(TRPS1):c.2031A>C (p.Lys677Asn)
NM_014159.7(SETD2):c.4612T>A (p.Tyr1538Asn)
NM_014297.5(ETHE1):c.417T>G (p.Cys139Trp) rs1472850646
NM_014712.3(SETD1A):c.1174C>A (p.Pro392Thr)
NM_014712.3(SETD1A):c.3752T>C (p.Val1251Ala)
NM_014780.5(CUL7):c.1000C>A (p.Gln334Lys) rs1561894798
NM_014875.3(KIF14):c.1270T>A (p.Tyr424Asn)
NM_014975.3(MAST1):c.4093G>A (p.Gly1365Ser) rs1231369269
NM_014991.6(WDFY3):c.9302T>G (p.Val3101Gly)
NM_015021.3(ZNF292):c.3830C>T (p.Ser1277Leu)
NM_015021.3(ZNF292):c.4457G>A (p.Gly1486Asp)
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_015166.4(MLC1):c.177+5G>A rs1555968723
NM_015166.4(MLC1):c.260C>T (p.Ala87Val)
NM_015267.4(CUX2):c.2953C>A (p.Pro985Thr)
NM_015559.3(SETBP1):c.3773C>T (p.Ser1258Leu)
NM_015978.3(TNNI3K):c.1392G>T (p.Glu464Asp)
NM_016151.4(TAOK2):c.492A>T (p.Leu164Phe)
NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg) rs146587418
NM_016532.4(INPP5K):c.1247G>C (p.Ser416Thr) rs777736302
NM_017534.6(MYH2):c.4352del (p.Lys1451fs) rs757195322
NM_017633.3(TENT5A):c.204G>T (p.Trp68Cys)
NM_017635.5(KMT5B):c.550A>G (p.Ile184Val)
NM_018116.4(MSTO1):c.725G>A (p.Gly242Asp)
NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)
NM_019842.4(KCNQ5):c.860T>C (p.Val287Ala)
NM_020223.4(FAM20C):c.1680C>A (p.Cys560Ter) rs371584776
NM_020366.4(RPGRIP1):c.1800_1805del (p.Ser601_Leu602del)
NM_020461.3(TUBGCP6):c.[3139C>T];[5140G>A]
NM_020461.4(TUBGCP6):c.317A>T (p.Glu106Val)
NM_020634.3(GDF3):c.288G>T (p.Lys96Asn)
NM_020791.4(TAOK1):c.2578C>T (p.Arg860Cys)
NM_020843.4(SCAPER):c.213T>G (p.Cys71Trp)
NM_020928.2(ZSWIM6):c.407G>T (p.Gly136Val) rs754658198
NM_021072.4(HCN1):c.1460T>C (p.Met487Thr)
NM_021072.4(HCN1):c.928C>T (p.His310Tyr) rs2111627182
NM_021224.6(ZNF462):c.3047G>A (p.Cys1016Tyr) rs1422121486
NM_022089.4(ATP13A2):c.859G>A (p.Asp287Asn) rs764560082
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn) rs1318444606
NM_022124.6(CDH23):c.9380+5G>C
NM_022575.4(VPS16):c.784C>T (p.Arg262Trp) rs376818050
NM_022841.7(RFX7):c.671G>A (p.Arg224His)
NM_022893.4(BCL11A):c.515G>C (p.Cys172Ser)
NM_024496.4(IRF2BPL):c.2018C>G (p.Ala673Gly)
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg) rs1399346230
NM_024678.6(NARS2):c.892T>A (p.Cys298Ser)
NM_024989.4(PGAP1):c.2286+5G>A rs937847069
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.442+5G>T rs752482400
NM_031407.7(HUWE1):c.3080C>T (p.Pro1027Leu)
NM_031448.6(C19orf12):c.244C>A (p.Pro82Thr)
NM_031448.6(C19orf12):c.332T>C (p.Val111Ala) rs1972173461
NM_031448.6(C19orf12):c.415T>C (p.Tyr139His)
NM_031448.6(C19orf12):c.46T>C (p.Ser16Pro) rs1568332606
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu) rs765314472
NM_032217.5(ANKRD17):c.2053G>A (p.Ala685Thr)
NM_032217.5(ANKRD17):c.4066C>T (p.Pro1356Ser) rs2148684710
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
NM_033380.3(COL4A5):c.989A>G (p.Lys330Arg)
NM_130839.5(UBE3A):c.1675G>C (p.Glu559Gln) rs2152730149
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_134261.3(RORA):c.197-26447T>C rs200399670
NM_138383.3(MTSS2):c.1858G>A (p.Asp620Asn)
NM_138435.4(FAM83F):c.671G>A (p.Arg224His)
NM_138927.4(SON):c.2302A>G (p.Thr768Ala)
NM_152641.4(ARID2):c.1588G>T (p.Ala530Ser)
NM_152722.5(HEPACAM):c.769G>C (p.Val257Leu)
NM_153033.5(KCTD7):c.302G>A (p.Gly101Asp) rs1554397831
NM_170606.3(KMT2C):c.13273G>A (p.Asp4425Asn)
NM_170606.3(KMT2C):c.3902C>T (p.Ser1301Phe)
NM_170606.3(KMT2C):c.9291G>A (p.Met3097Ile) rs747180312
NM_173628.4(DNAH17):c.6389C>T (p.Ala2130Val)
NM_173628.4(DNAH17):c.7144G>C (p.Glu2382Gln)
NM_173653.4(SLC9A9):c.1380G>T (p.Met460Ile)
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) rs150497723
NM_175914.5(HNF4A):c.128A>G (p.Asp43Gly)
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_178424.2(SOX30):c.2234A>T (p.Glu745Val)
NM_181882.3(PRX):c.4243G>A (p.Val1415Met) rs201222650
NM_183357.3(ADCY5):c.225CGA[4] (p.Asp80del) rs754577305
NM_194279.4(ISCA2):c.314G>T (p.Arg105Ile)
NM_194454.3(KRIT1):c.492A>T (p.Leu164Phe) rs2131664007
NM_198880.3(QRICH1):c.598G>A (p.Val200Met)
NM_201384.3(PLEC):c.7895C>T (p.Ala2632Val)
NM_203290.4(POLR1C):c.883A>G (p.Lys295Glu)
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly) rs1469032409
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_212482.4(FN1):c.338A>G (p.Glu113Gly)

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