ClinVar Miner

List of variants reported as pathogenic by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

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ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_005559.4(LAMA1):c.8556+1G>A rs764745270 0.00011
NM_001127178.3(PIGG):c.2005C>T (p.Arg669Cys) rs372392424 0.00010
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr) rs139751598 0.00004
NM_014797.3(ZBTB24):c.958C>T (p.Arg320Ter) rs387907104 0.00003
NM_006907.4(PYCR1):c.540+1G>A rs752297179 0.00002
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_006907.4(PYCR1):c.722C>T (p.Ala241Val) rs770505872 0.00001
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter) rs387907013 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 0.00001
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000051.4(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000141.5(FGFR2):c.812G>T (p.Gly271Val) rs1564919048
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000168.6(GLI3):c.4202del (p.Ser1401fs) rs1583728165
NM_000435.3(NOTCH3):c.6626dup (p.Pro2210fs) rs1599359239
NM_000489.6(ATRX):c.4558-3T>G rs1602996115
NM_000489.6(ATRX):c.7205del (p.Ile2402fs) rs1569513017
NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter) rs121907952
NM_000834.5(GRIN2B):c.1439_1446del (p.Leu480fs) rs1949426932
NM_001024630.4(RUNX2):c.738C>T (p.Leu246=) rs1582169095
NM_001080517.3(SETD5):c.1852C>T (p.Arg618Ter) rs1218918142
NM_001083962.2(TCF4):c.1719_1722dup (p.Ala575fs) rs1057518848
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) rs886041279
NM_001197104.2(KMT2A):c.10376del (p.Asn3459fs) rs1591286581
NM_001197104.2(KMT2A):c.5621dup (p.Gln1875fs) rs1555043939
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) rs1554434435
NM_001348323.3(TRIP12):c.399dup (p.Pro134fs) rs2060119917
NM_001356.5(DDX3X):c.1600C>G (p.Arg534Gly) rs1555954284
NM_001356.5(DDX3X):c.1746del (p.Ser583fs) rs2063933817
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_001360.3(DHCR7):c.1A>C (p.Met1Leu) rs104886033
NM_001374828.1(ARID1B):c.3277A>T (p.Lys1093Ter) rs902091666
NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=) rs1583451360
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter) rs387907141
NM_001374828.1(ARID1B):c.3692_3693del (p.Lys1231fs) rs876657380
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001375524.1(TRRAP):c.3128C>T (p.Ala1043Val) rs1790093579
NM_001429.4(EP300):c.3070_3071insT (p.Lys1024fs) rs1601621506
NM_001429.4(EP300):c.3905dup (p.Glu1303fs) rs2059152743
NM_001453.3(FOXC1):c.392C>G (p.Ser131Trp) rs104893957
NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val) rs868820857
NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr) rs1045330263
NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter) rs1481453913
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu) rs863225045
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003011.4(SET):c.458C>A (p.Ser153Ter) rs764645296
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys) rs1343138502
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter) rs1575165272
NM_003482.4(KMT2D):c.13320del (p.Ile4440fs) rs1845429019
NM_003482.4(KMT2D):c.15834del (p.Asp5279fs) rs1592102369
NM_003482.4(KMT2D):c.5278A>T (p.Lys1760Ter) rs1592142093
NM_003482.4(KMT2D):c.5869G>T (p.Glu1957Ter) rs1592139573
NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter) rs1251778848
NM_003482.4(KMT2D):c.9223dup (p.Ser3075fs) rs1592130816
NM_004247.4(EFTUD2):c.1414-2A>G rs1597797917
NM_004273.5(CHST3):c.1254GAA[1] (p.Lys419del) rs1589510055
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg) rs121913375
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs) rs1596812256
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter) rs1596783639
NM_004423.4(DVL3):c.1715-2A>C rs869025216
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del) rs1601954686
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter) rs1601953552
NM_004586.3(RPS6KA3):c.1959+2dup rs1057518853
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) rs1598233581
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_005629.4(SLC6A8):c.942_944del (p.Phe315del) rs2091467532
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys) rs137853049
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) rs387906846
NM_006015.6(ARID1A):c.5940_6000del (p.Val1982fs) rs2124144295
NM_006767.4(LZTR1):c.1785+1G>C rs145594158
NM_006907.4(PYCR1):c.11G>T (p.Gly4Val) rs1598358440
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.245T>C (p.Phe82Ser) rs868208063
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) rs1571999498
NM_006940.6(SOX5):c.405dup (p.Lys136fs) rs2096571436
NM_007327.4(GRIN1):c.1853G>T (p.Gly618Val) rs1833614725
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) rs1554843815
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter) rs900492387
NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter) rs1156815415
NM_013275.6(ANKRD11):c.2826_2829del (p.Arg942fs) rs1597459077
NM_013275.6(ANKRD11):c.4270del (p.Ser1424fs) rs1597452422
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs) rs1555525115
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.2110del (p.Cys704fs) rs1586431903
NM_014112.5(TRPS1):c.2725dup (p.Cys909fs) rs1554617582
NM_014489.4(PGAP2):c.2T>G (p.Met1Arg) rs1590215915
NM_014489.4(PGAP2):c.713G>C (p.Arg238Pro) rs774843232
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs) rs886043994
NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs) rs1600588239
NM_015443.4(KANSL1):c.1849-4661_1895del
NM_017780.4(CHD7):c.2442+5G>C rs387906271
NM_017780.4(CHD7):c.2520G>A (p.Trp840Ter) rs1586379156
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.635del (p.Gln212fs) rs1586249038
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) rs199422151
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) rs199422152
NM_018136.5(ASPM):c.5863dup (p.Gln1955fs) rs1571600860
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs) rs1558328287
NM_018451.5(CENPJ):c.18del (p.Ser7fs) rs199422202
NM_018486.3(HDAC8):c.1112-4_1116del rs1602491207
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) rs886041936
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020699.4(GATAD2B):c.365C>G (p.Ser122Ter) rs1674609315
NM_020706.2(SCAF4):c.571C>T (p.Gln191Ter) rs2050538888
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_024757.5(EHMT1):c.1647+2T>C rs1057518913
NM_024757.5(EHMT1):c.3443del (p.Pro1148fs) rs1588875719
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs) rs1135401792
NM_032634.4(PIGO):c.2397A>C (p.Gln799His) rs1587162510
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_057175.5(NAA15):c.1446dup (p.Gln483fs) rs1748100957
NM_057175.5(NAA15):c.1624_1627delinsAT (p.Leu542fs) rs2110959790
NM_080680.3(COL11A2):c.4465G>A (p.Gly1489Ser) rs1583287711
NM_133433.4(NIPBL):c.7948dup (p.Ile2650fs) rs2149759954
NM_138927.4(SON):c.6022C>T (p.Arg2008Ter) rs1555899560
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_176787.5(PIGN):c.1660G>A (p.Gly554Arg) rs747283967
NM_181458.4(PAX3):c.748dup (p.Glu250fs) rs1574661904

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