ClinVar Miner

List of variants reported by Laan Lab, Human Genetics Research Group, University of Tartu

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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_138289.4(ACTRT1):c.547dup (p.Met183fs) rs771087307 0.00191
NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter) rs141801212 0.00112
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln) rs768165720 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser) rs149992595 0.00010
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) rs797045116 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_000044.6(AR):c.1723C>G (p.Leu575Val) rs376443652 0.00003
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_000033.4(ABCD1):c.854G>A (p.Arg285His) rs782635828 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys) rs368489876 0.00002
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_001374353.1(GLI2):c.1253A>G (p.Tyr418Cys) rs759585885 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln) rs727504292 0.00001
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln) rs781431741 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His) rs1197494895 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 0.00001
NM_000044.6(AR):c.1106T>C (p.Leu369Pro)
NM_000044.6(AR):c.1286C>A (p.Ala429Asp)
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000218.3(KCNQ1):c.518T>A (p.Val173Asp) rs199472695
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000489.6(ATRX):c.2542G>T (p.Asp848Tyr)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000545.8(HNF1A):c.467C>A (p.Thr156Lys) rs150513055
NM_001042492.3(NF1):c.4348G>T (p.Ala1450Ser)
NM_001085049.3(MRAS):c.359C>T (p.Pro120Leu)
NM_001114122.3(CHEK1):c.1036C>T (p.Gln346Ter)
NM_001126128.2(PROK2):c.122G>A (p.Gly41Asp)
NM_001126128.2(PROK2):c.313C>T (p.His105Tyr)
NM_001130969.3(NSMF):c.710+1G>A
NM_001142966.3(GREB1L):c.23A>C (p.Gln8Pro)
NM_001142966.3(GREB1L):c.311C>T (p.Pro104Leu)
NM_001347721.2(DYRK1A):c.371G>A (p.Arg124Gln)
NM_001347721.2(DYRK1A):c.994G>T (p.Ala332Ser)
NM_001378902.1(ROS1):c.3611T>A (p.Leu1204Ter)
NM_001378902.1(ROS1):c.5588dup (p.Ile1864fs)
NM_001717.4(BNC1):c.1874_1875del (p.Pro625fs)
NM_001717.4(BNC1):c.621_637del (p.Phe207fs)
NM_002474.3(MYH11):c.5083-1G>A rs1596712899
NM_002755.4(MAP2K1):c.635G>C (p.Ser212Thr)
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.362A>C (p.Glu121Ala)
NM_002834.5(PTPN11):c.518G>T (p.Arg173Leu)
NM_003482.4(KMT2D):c.16051C>T (p.Arg5351Trp)
NM_003722.5(TP63):c.1283C>T (p.Pro428Leu)
NM_004959.5(NR5A1):c.1140T>C (p.Asp380=)
NM_004959.5(NR5A1):c.22G>C (p.Asp8His)
NM_004959.5(NR5A1):c.31G>A (p.Glu11Lys)
NM_004959.5(NR5A1):c.334C>T (p.Gln112Ter) rs1832456567
NM_004959.5(NR5A1):c.462del (p.Gly155fs)
NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu)
NM_004959.5(NR5A1):c.991-1G>C rs2131277756
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.406T>C (p.Tyr136His) rs1671229414
NM_005633.4(SOS1):c.642A>C (p.Gln214His)
NM_005778.4(RBM5):c.217G>A (p.Glu73Lys)
NM_006080.3(SEMA3A):c.1450C>T (p.Arg484Trp)
NM_006086.4(TUBB3):c.953G>A (p.Arg318Gln)
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006767.4(LZTR1):c.540del (p.Thr181fs)
NM_006767.4(LZTR1):c.891T>A (p.Tyr297Ter)
NM_006939.4(SOS2):c.26A>G (p.Glu9Gly)
NM_007294.4(BRCA1):c.2299del (p.Ser767fs) rs80357786
NM_012084.4(GLUD2):c.412C>T (p.Gln138Ter)
NM_014258.4(SYCP2):c.600-1G>A
NM_015295.3(SMCHD1):c.2656C>T (p.Arg886Ter)
NM_021951.3(DMRT1):c.395G>A (p.Gly132Asp)
NM_021951.3(DMRT1):c.425C>T (p.Ala142Val)
NM_021951.3(DMRT1):c.982A>G (p.Ser328Gly)
NM_024426.6(WT1):c.1244T>A (p.Met415Lys)
NM_024426.6(WT1):c.451T>G (p.Trp151Gly)
NM_024426.6(WT1):c.455del (p.Gly152fs) rs2133103216
NM_031407.7(HUWE1):c.5632G>T (p.Ala1878Ser)
NM_032656.4(DHX37):c.1156G>A (p.Gly386Ser)
NM_032656.4(DHX37):c.2177dup (p.Thr727fs)
NM_032656.4(DHX37):c.2698A>G (p.Asn900Asp)
NM_032656.4(DHX37):c.2762A>G (p.Gln921Arg)
NM_033163.5(FGF8):c.290T>C (p.Leu97Pro)
NM_130768.3(ASZ1):c.460A>G (p.Met154Val)
NM_138792.4(LEO1):c.607C>T (p.Gln203Ter)
NM_139214.3(TGIF2LY):c.534_535del (p.Leu179fs)
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683
NM_153448.4(ESX1):c.1094C>G (p.Pro365Arg)
NM_173518.5(MCMDC2):c.1363C>T (p.Gln455Ter)
NM_173518.5(MCMDC2):c.1767T>A (p.Tyr589Ter)
NM_175737.4(KLB):c.2676del (p.Ile892fs)
NM_178470.5(DCAF12L1):c.406_407del (p.Leu136fs)
NM_207037.2(TCF12):c.1597C>T (p.Gln533Ter)
NM_207037.2(TCF12):c.314C>A (p.Ser105Ter)

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