ClinVar Miner

List of variants reported as uncertain significance by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser) rs113718290 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly) rs202038275 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426 0.00011
NM_020693.4(DSCAML1):c.3529G>A (p.Val1177Ile) rs544850403 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_001385089.1(BEGAIN):c.1162G>A (p.Gly388Arg) rs370537162 0.00004
NM_014653.4(WSCD2):c.628G>A (p.Ala210Thr) rs771199825 0.00004
NM_015135.3(NUP205):c.2008A>G (p.Thr670Ala) rs766483323 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_033133.5(CNP):c.1057C>T (p.Arg353Trp) rs376643712 0.00004
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_001144.6(AMFR):c.1166G>A (p.Arg389His) rs758196891 0.00002
NM_017699.3(SIDT1):c.2339G>A (p.Arg780His) rs374060767 0.00002
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000337.6(SGCD):c.4-1G>A rs1554094927 0.00001
NM_001035.3(RYR2):c.505C>T (p.Arg169Ter) rs749930577 0.00001
NM_001130528.3(SPAG9):c.650C>T (p.Thr217Ile) rs377451130 0.00001
NM_001166114.2(PNPLA6):c.647C>T (p.Pro216Leu) rs777837588 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001278689.2(EOGT):c.548T>A (p.Ile183Asn) rs773091065 0.00001
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) rs1246068842 0.00001
NM_001927.4(DES):c.1063C>T (p.Arg355Ter) rs762808690 0.00001
NM_004380.3(CREBBP):c.1585A>G (p.Met529Val) rs747187975 0.00001
NM_015135.3(NUP205):c.595T>G (p.Phe199Val) rs778448630 0.00001
NM_020336.4(RALGAPB):c.457C>T (p.Arg153Cys) rs756555782 0.00001
NM_020850.3(RANBP10):c.1180G>A (p.Ala394Thr) rs537689953 0.00001
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) rs794728075 0.00001
NM_139075.4(TPCN2):c.1259C>T (p.Pro420Leu) rs751510479 0.00001
NM_198488.5(FAM83H):c.682G>A (p.Val228Ile) rs200211843 0.00001
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000268.4(NF2):c.535A>G (p.Met179Val) rs1601613523
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000384.3(APOB):c.619A>G (p.Arg207Gly) rs1572801584
NM_000455.5(STK11):c.418_420del (p.Leu140del) rs1599925362
NM_000701.8(ATP1A1):c.2021C>G (p.Thr674Ser) rs1570973191
NM_000834.3:c.3628_3629insALU
NM_000834.5(GRIN2B):c.1010+13168T>C
NM_000937.5(POLR2A):c.1881+3A>G rs2150882412
NM_001005388.3(NFASC):c.1291C>T (p.Arg431Trp)
NM_001018057.2(DKK3):c.505C>A (p.Gln169Lys) rs1590500384
NM_001040108.2(MLH3):c.2793_2794del (p.Asn932fs) rs754716792
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001136107.2(NTMT2):c.13G>C (p.Gly5Arg) rs1571813658
NM_001142966.3(GREB1L):c.833A>T (p.Asp278Val)
NM_001162501.2(TNRC6B):c.3874C>T (p.Gln1292Ter)
NM_001206999.2(CIT):c.5047C>A (p.Leu1683Met) rs1593428225
NM_001267550.2(TTN):c.36281dup (p.His12095fs) rs2154259448
NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys) rs965997128
NM_001267550.2(TTN):c.74760_74767delinsAC (p.Ser24921_Asp24923delinsHis) rs2154169263
NM_001277115.2(DNAH11):c.1848+1G>T
NM_001318852.2(MAPK8IP3):c.2025+2T>G
NM_001330360.2(POLA1):c.4313A>T (p.Lys1438Ile)
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) rs724159955
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu) rs1602300014
NM_001369741.1(ZBTB46):c.1421A>G (p.Tyr474Cys) rs1601379733
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr) rs794727100
NM_001384711.1(GLT8D2):c.785G>C (p.Ser262Thr) rs1212627359
NM_001795.5(CDH5):c.265G>A (p.Val89Met) rs1596937199
NM_001913.5(CUX1):c.1671C>A (p.Tyr557Ter)
NM_003024.3(ITSN1):c.1258G>T (p.Glu420Ter) rs2147788557
NM_003024.3(ITSN1):c.1389_1392del (p.Lys463fs) rs2147816344
NM_003024.3(ITSN1):c.1726G>T (p.Glu576Ter) rs2070234124
NM_003024.3(ITSN1):c.1960C>T (p.Gln654Ter) rs2148042910
NM_003024.3(ITSN1):c.2894dup (p.Tyr965Ter) rs2148264796
NM_003024.3(ITSN1):c.3116G>A (p.Trp1039Ter) rs2148309198
NM_003024.3(ITSN1):c.4354A>T (p.Asn1452Tyr) rs2148556842
NM_003024.3(ITSN1):c.789-2A>G rs2147709709
NM_003107.3(SOX4):c.362C>G (p.Ala121Gly)
NM_003590.5(CUL3):c.1206+1G>T rs2106202524
NM_003590.5(CUL3):c.1358dup (p.Asn453fs) rs1366667901
NM_003590.5(CUL3):c.1538G>A (p.Trp513Ter)
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) rs1575116846
NM_004369.4(COL6A3):c.432G>C (p.Gln144His) rs1574755799
NM_004415.4(DSP):c.800A>C (p.Asp267Ala) rs1274581796
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr) rs771986131
NM_005336.6(HDLBP):c.2470C>G (p.Arg824Gly) rs371053785
NM_005602.6(CLDN11):c.93_104del (p.Val32_Gly35del) rs1577466242
NM_005618.4(DLL1):c.553G>T (p.Gly185Ter) rs751616159
NM_005639.3(SYT1):c.1049T>A (p.Phe350Tyr)
NM_006035.4(CDC42BPB):c.1525C>T (p.Arg509Ter)
NM_006656.6(NEU3):c.316C>G (p.Leu106Val) rs1591760963
NM_006767.4(LZTR1):c.443A>G (p.Asn148Ser)
NM_006772.3(SYNGAP1):c.2047A>G (p.Ile683Val) rs147668681
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp) rs2151199464
NM_006924.5(SRSF1):c.130G>A (p.Asp44Asn)
NM_006924.5(SRSF1):c.548A>G (p.His183Arg)
NM_007067.5(KAT7):c.1480A>G (p.Ser494Gly)
NM_007166.4(PICALM):c.274-1G>A rs1593069568
NM_007245.4(ATXN2L):c.944T>C (p.Met315Thr) rs1596911741
NM_012181.5(FKBP8):c.724G>A (p.Ala242Thr) rs1485300085
NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)
NM_014712.3(SETD1A):c.1503del (p.Lys502fs)
NM_014820.5(TOMM70):c.1476del (p.Phe492fs)
NM_015021.3(ZNF292):c.323+1G>A
NM_015021.3(ZNF292):c.4933C>T (p.Gln1645Ter)
NM_015021.3(ZNF292):c.7460del (p.Leu2487fs)
NM_015355.4(SUZ12):c.274+5G>A
NM_015360.5(MTREX):c.1781A>G (p.His594Arg) rs1579873373
NM_015595.4(ARHGEF26):c.999GAA[3] (p.Lys336del) rs535601495
NM_016151.4(TAOK2):c.3202A>T (p.Arg1068Ter)
NM_017951.5(SMPD4):c.1137CTT[1] (p.Phe380del) rs1406657630
NM_017951.5(SMPD4):c.1174del (p.Ala392fs) rs2104814089
NM_018009.5(TAPBPL):c.526A>C (p.Asn176His) rs1592129355
NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg) rs1278938202
NM_020706.2(SCAF4):c.1463_1466del (p.Arg488fs)
NM_020706.2(SCAF4):c.3212_3215del (p.Glu1071fs)
NM_022075.5(CERS2):c.358C>T (p.Arg120Cys) rs1571673661
NM_024577.4(SH3TC2):c.3676-8G>A rs772823083
NM_032199.3(ARID5B):c.1302del (p.Asn434fs)
NM_032776.3(JMJD1C):c.1919del (p.Pro640fs)
NM_052846.2(EMILIN3):c.1645C>T (p.Arg549Cys) rs866307238
NM_052892.5(PKD1L2):c.2734_2758del25 (p.Gly913Aspfs) rs1597273166
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_174936.4(PCSK9):c.443_444del (p.Ser148fs) rs978861923
NM_181303.2(NLGN3):c.163C>T (p.Arg55Ter)
NM_182931.3(KMT2E):c.5219del (p.His1740fs)
NM_194318.4(B3GLCT):c.1354dup (p.Asp452fs) rs1593326694
Single allele

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