ClinVar Miner

List of variants reported as likely pathogenic by Hadassah Hebrew University Medical Center

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ClinVar version:
Total variants: 127
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HGVS dbSNP
NM_000067.3(CA2):c.579C>G (p.Tyr193Ter) rs1203921376
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000094.3(COL7A1):c.6696del (p.Gly2233fs) rs749256529
NM_000111.3(SLC26A3):c.1652del (p.Phe551fs) rs1584403556
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000285.4(PEPD):c.504-1G>A rs542228812
NM_000287.4(PEX6):c.2300+2T>C rs1581760028
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter)
NM_000426.3(LAMA2):c.1467+2T>C rs1554234163
NM_001002755.4(NFU1):c.485-1G>C rs1464338870
NM_001017420.3(ESCO2):c.956-2A>G rs1207909659
NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) rs1596760831
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001080.3(ALDH5A1):c.1045C>T (p.Gln349Ter) rs1581819950
NM_001098426.2(SMARCD2):c.568-1G>C rs112986541
NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter) rs369867819
NM_001130690.3(PDE10A):c.544C>T (p.Arg182Ter) rs1583275773
NM_001134225.2(INPP4A):c.350_351TC[1] (p.Ser118fs) rs1574965220
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter) rs1176071790
NM_001136271.2(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422
NM_001142864.4(PIEZO1):c.4373_4387delinsCGGCAGCAGG (p.Val1458fs)
NM_001163435.3(TBCK):c.1854del (p.Pro619fs) rs1579257340
NM_001206979.2(NR1H4):c.1034del (p.Pro345fs) rs1593114820
NM_001243597.1(CDON):c.622C>T (p.Arg208Ter) rs767611891
NM_001256007.3(PNPLA8):c.1580G>A (p.Trp527Ter) rs1598909288
NM_001271803.2(REEP2):c.696+2T>G rs1580980701
NM_001277115.2(DNAH11):c.7267-1G>T rs759302236
NM_001278716.2(FBXL4):c.1323del (p.Ala442fs) rs1582367960
NM_001283.5(AP1S1):c.220C>T (p.Gln74Ter) rs1584203922
NM_001283.5(AP1S1):c.364del (p.Asp122fs) rs767358930
NM_001286715.1(AGTPBP1):c.2351A>G (p.Tyr784Cys) rs1564069651
NM_001290343.2(CERS3):c.46del (p.Leu16fs) rs1596772428
NM_001330368.2(C11orf65):c.641-20099_641-20096del rs1591151678
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs) rs1580974401
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs) rs1264504989
NM_001367561.1(DOCK7):c.5101C>T (p.Arg1701Ter) rs1419019482
NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter) rs1057524081
NM_001481.3(GAS8):c.865del (p.Glu289fs) rs1597643228
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs) rs770214617
NM_003193.5(TBCE):c.355_356del (p.Ile119fs) rs1572391840
NM_003283.6(TNNT1):c.606_607insTAGTG (p.Leu203Ter) rs1599875856
NM_003682.4(MADD):c.2816+1G>A
NM_003705.5(SLC25A12):c.326-2A>C rs1573977142
NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter) rs1574462504
NM_003803.4(MYOM1):c.3260G>A (p.Trp1087Ter) rs374670754
NM_003829.5(MPDZ):c.4003A>T (p.Lys1335Ter) rs1587149916
NM_004035.7(ACOX1):c.1311_1312del (p.Ser438fs) rs747192384
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) rs1586821679
NM_004408.4(DNM1):c.850C>T (p.Gln284Ter) rs1588368432
NM_004628.5(XPC):c.470_471del (p.Leu157fs) rs1574972784
NM_004667.6(HERC2):c.7768_7772dup (p.Gly2592fs) rs1596199137
NM_004722.4(AP4M1):c.203del (p.Val68fs) rs1584507780
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_004937.3(CTNS):c.587dup (p.Asn196fs) rs1597654857
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter) rs1463026342
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.4(MARS1):c.920A>G (p.Tyr307Cys) rs758523839
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys) rs143595616
NM_005245.4(FAT1):c.2598_2599CA[1] (p.Thr867fs) rs1579484850
NM_005251.3(FOXC2):c.347G>A (p.Trp116Ter)
NM_005276.4(GPD1):c.953+1G>A rs1592303371
NM_005356.5(LCK):c.1129dup (p.Ser377fs) rs1569967422
NM_005544.2(IRS1):c.158G>A (p.Trp53Ter) rs1574667668
NM_005609.4(PYGM):c.1742del (p.Cys581fs) rs1592409631
NM_006019.4(TCIRG1):c.2415-1G>C rs1590819770
NM_006019.4(TCIRG1):c.674del (p.Gly225fs) rs1590804397
NM_006941.4(SOX10):c.979del (p.Ala327fs)
NM_007262.5(PARK7):c.90+1dup rs1578089802
NM_012205.3(HAAO):c.243+1G>A rs1232096291
NM_013322.3(SNX10):c.151C>T (p.Arg51Ter) rs1353879401
NM_014140.4(SMARCAL1):c.365_366TC[2] (p.Pro124fs) rs1574443257
NM_014141.6(CNTNAP2):c.1785C>G (p.Tyr595Ter) rs781574808
NM_014268.4(MAPRE2):c.380G>A (p.Arg127Gln) rs1603400699
NM_014363.6(SACS):c.964G>T (p.Glu322Ter) rs1593145590
NM_014639.4(TTC37):c.4070del (p.Pro1357fs) rs1582849807
NM_015120.4(ALMS1):c.6272del (p.Ser2091fs) rs1572937636
NM_015175.3(NBEAL2):c.7225-1G>C rs1575628744
NM_015239.2(AGTPBP1):c.2066+2T>G rs1564069807
NM_015312.3(KIAA1109):c.1381-2A>G rs1579206545
NM_015602.3(TOR1AIP1):c.961C>T (p.Arg321Ter) rs11581962
NM_016030.6(TRAPPC12):c.145del (p.Glu49fs) rs1553309983
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) rs769429967
NM_016341.4(PLCE1):c.5559T>G (p.Tyr1853Ter) rs1589509476
NM_016350.4(NIN):c.3976C>T (p.Arg1326Ter) rs373844676
NM_016356.5(DCDC2):c.549dup (p.Val184fs) rs1581640646
NM_016373.4(WWOX):c.108-2A>T rs1597207802
NM_016648.4(LARP7):c.1529_1541del (p.Tyr510fs) rs1578642104
NM_017617.5(NOTCH1):c.5385-1G>A
NM_017755.6(NSUN2):c.430_431del (p.Lys144fs) rs1579377990
NM_017825.3(ADPRS):c.167_168AG[1] (p.Leu58fs) rs1570008399
NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs) rs1575247302
NM_017890.4(VPS13B):c.4894C>T (p.Gln1632Ter) rs1588491546
NM_017909.4(RMND1):c.727del (p.Thr243fs) rs1582957532
NM_018238.4(AGK):c.877+2T>G rs1587162871
NM_018297.4(NGLY1):c.1294G>T (p.Glu432Ter) rs992161646
NM_018993.3(RIN2):c.275_276AC[3] (p.His94fs) rs1600939486
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter) rs1227905250
NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter) rs1574748038
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) rs1574787779
NM_020964.3(EPG5):c.4387_4388del (p.Val1463fs) rs1599536432
NM_022167.4(XYLT2):c.1584dup (p.Gly529fs) rs779864368
NM_023036.6(DNAI2):c.674del (p.Asn225fs) rs1598293348
NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter) rs1578209906
NM_025000.4(DCAF17):c.580C>T (p.Arg194Ter) rs1470826074
NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs) rs1592671672
NM_025137.4(SPG11):c.5199del (p.Lys1733fs) rs779268551
NM_032789.5(PARP10):c.647_648del (p.Thr216fs) rs1587459606
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His) rs571640983
NM_032861.4(SERAC1):c.698T>A (p.Leu233Ter) rs1583589537
NM_058172.6(ANTXR2):c.1190dup (p.Gly397_Asp398insTer) rs1578125066
NM_080546.5(SLC44A1):c.1009C>T (p.Gln337Ter) rs1588833694
NM_130810.4(DNAAF4):c.384_390del (p.Lys127_Tyr128insTer) rs1595952313
NM_144596.3(TTC8):c.265+1_265+2del rs1595939517
NM_152281.3(GORAB):c.5del (p.Ala2fs) rs1571232872
NM_152393.4(KLHL40):c.25G>T (p.Glu9Ter) rs1575218072
NM_152515.5(CKAP2L):c.548_551CAAA[1] (p.Asn184fs) rs778989224
NM_173076.3(ABCA12):c.1918dup (p.Leu640fs) rs1574984736
NM_173660.5(DOK7):c.439del (p.Ala147fs) rs1577153029
NM_173660.5(DOK7):c.773-2_773-1del rs770163440
NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs) rs1578577361
NM_178040.4(ERC1):c.3037dup (p.Leu1013fs) rs1592108170
NM_178859.4(SLC51B):c.84del (p.Arg29fs) rs1595900104
NM_181789.4(GLDN):c.385_392del (p.Cys129fs)
NM_183075.3(CYP2U1):c.739_742del (p.Glu247fs) rs1248632205
NM_199242.2(UNC13D):c.498del (p.Glu167fs) rs1599414759
NM_207396.3(RNF207):c.1109+1G>A rs552508881
NM_213599.3(ANO5):c.860_863dup (p.Leu289fs) rs1590266513

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