ClinVar Miner

List of variants reported as pathogenic by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 378
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_139279.6(MCFD2):c.249del (p.Asp83fs) rs1294221028 0.00022
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) rs121434251 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_014140.4(SMARCAL1):c.2070+2dup rs762716070 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001369.3(DNAH5):c.1089+1G>A rs574586008 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) rs193922464 0.00004
NM_001042472.3(ABHD12):c.337_338del (p.Asp113fs) rs387906217 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_006383.4(CIB2):c.97C>T (p.Arg33Ter) rs201845656 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser) rs368513591 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_015665.6(AAAS):c.1331+1G>A rs150511103 0.00003
NM_016103.4(SAR1B):c.83_84del (p.Leu28fs) rs755928019 0.00003
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00003
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter) rs201213030 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000359.3(TGM1):c.160C>T (p.Arg54Ter) rs140000324 0.00002
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) rs774765029 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter) rs749890642 0.00002
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu) rs139759238 0.00002
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_000053.4(ATP7B):c.1708-1G>C rs137853280 0.00001
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly) rs281875225 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000144.5(FXN):c.3G>T (p.Met1Ile) rs104894108 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr) rs104894527 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs) rs756434927 0.00001
NM_001042472.3(ABHD12):c.1075del (p.Val359fs) rs757670984 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001253852.3(AP4B1):c.444del (p.His148fs) rs1354513700 0.00001
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter) rs976363536 0.00001
NM_001277115.2(DNAH11):c.5778+1G>A rs72657333 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) rs121434526 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005559.4(LAMA1):c.3099G>A (p.Trp1033Ter) rs769655038 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_012144.4(DNAI1):c.1490-2A>G rs775831317 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_017534.6(MYH2):c.1920del (p.Gly642fs) rs1230553094 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter) rs121913161 0.00001
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.6726dup (p.Gln2243fs) rs2136314701
NM_000051.4(ATM):c.7165del (p.Ser2389fs) rs2136414843
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000088.4(COL1A1):c.1A>G (p.Met1Val) rs1555575889
NM_000088.4(COL1A1):c.608G>T (p.Gly203Val) rs72667031
NM_000090.4(COL3A1):c.1177G>C (p.Gly393Arg) rs2153502348
NM_000090.4(COL3A1):c.555del (p.Gly186fs) rs587779451
NM_000090.4(COL3A1):c.753del (p.Gly252fs) rs2153501973
NM_000092.5(COL4A4):c.3289+1G>T rs1973128133
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4943-2A>G rs2141267795
NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs) rs1555396636
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1210G>T (p.Glu404Ter) rs797044974
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter) rs1583805203
NM_000168.6(GLI3):c.1497+1G>A rs1399654830
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) rs121913670
NM_000249.4(MLH1):c.1731+1G>A rs267607853
NM_000249.4(MLH1):c.1990-3C>G rs267607882
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs) rs1555621442
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter) rs751249367
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000435.3(NOTCH3):c.1591T>G (p.Cys531Gly) rs2145434233
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000494.4(COL17A1):c.1179del (p.Ala394fs) rs531930614
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) rs1816578250
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs) rs766191969
NM_001031726.4(C19orf12):c.164_166delGGG rs398122409
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter) rs878853897
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001110556.2(FLNA):c.5159dup (p.Tyr1720Ter) rs2148107418
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter) rs886041847
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001194998.2(CEP152):c.467dup (p.Gln157fs) rs1208144689
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) rs1555043796
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs) rs1349668884
NM_001257180.2(SLC20A2):c.1158C>A (p.Tyr386Ter) rs2131006757
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter) rs376188859
NM_001277115.2(DNAH11):c.13103_13104del (p.Leu4368fs) rs2128051824
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001292034.3(TAB2):c.1340_1341del (p.Ser447fs) rs2114887873
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.731C>G (p.Ser244Ter) rs1275844963
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365276.2(TNXB):c.2590C>T (p.Gln864Ter) rs748223125
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter) rs1752923333
NM_001369268.1(ACAN):c.2023C>T (p.Arg675Ter) rs1356219990
NM_001371279.1(REEP1):c.301A>T (p.Lys101Ter) rs2104243903
NM_001371279.1(REEP1):c.417+1G>T rs2104223296
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg) rs63749855
NM_001378609.3(OTOGL):c.6122-1G>A rs952235302
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001734.5(C1S):c.1537G>T (p.Gly513Ter) rs2135729949
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001845.6(COL4A1):c.1870G>T (p.Gly624Ter) rs1188823925
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001854.4(COL11A1):c.3816+1G>C rs398122828
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.243del (p.Ser82fs) rs63751193
NM_002087.4(GRN):c.373C>T (p.Gln125Ter) rs63750077
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg) rs80358313
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) rs121908670
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) rs121908985
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) rs587777617
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn) rs28941469
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005032.7(PLS3):c.1262+1G>A rs868979288
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005378.6(MYCN):c.204_205del (p.Glu69fs) rs2103324191
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del) rs782433037
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His) rs1064796460
NM_006031.6(PCNT):c.2818dup (p.Ala940fs) rs2146922648
NM_006371.5(CRTAP):c.21_22dup (p.Ala8fs) rs137853936
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln) rs2147777346
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.78_79del (p.Gln27fs) rs2146153237
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs) rs80357636
NM_013275.6(ANKRD11):c.6402del (p.Phe2136fs) rs2151736491
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7806+1G>T rs2151675590
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_014208.3(DSPP):c.52-2A>G rs2109995326
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) rs1568235086
NM_015629.4(PRPF31):c.178-1G>A rs2146393934
NM_016169.4(SUFU):c.71del (p.Pro24fs) rs587776579
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter) rs1564421528
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017950.4(CCDC40):c.1855C>T (p.Gln619Ter) rs2143735173
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_019032.6(ADAMTSL4):c.2254C>T (p.Gln752Ter) rs778345588
NM_019032.6(ADAMTSL4):c.963dup (p.Thr322fs) rs748115277
NM_019066.5(MAGEL2):c.1021C>T (p.Gln341Ter) rs2140717169
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020812.4(DOCK6):c.4751+1G>A rs867039578
NM_022370.4(ROBO3):c.571dup (p.Arg191fs) rs756837590
NM_024496.4(IRF2BPL):c.376C>T (p.Gln126Ter) rs1555377483
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_025074.7(FRAS1):c.11544del (p.Arg3849fs) rs776789412
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_030632.3(ASXL3):c.4336_4337del (p.Arg1446fs) rs1599573656
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) rs80358229
NM_031433.4(MFRP):c.498del (p.Asn167fs) rs587776596
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_057176.3(BSND):c.1A>T (p.Met1Leu) rs74315284
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_139057.4(ADAMTS17):c.1075+1G>T rs2141962944
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145331.3(MAP3K7):c.1535C>T (p.Pro512Leu) rs886039230
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_177438.3(DICER1):c.2524del (p.Met842fs) rs2140025249
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys) rs869312849
NM_182925.5(FLT4):c.3391G>C (p.Gly1131Arg) rs1554109707
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_194318.4(B3GLCT):c.335del (p.Pro112fs) rs2137805318
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.