ClinVar Miner

List of variants reported as likely pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 479
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00502
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
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_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000048.4(ASL):c.532G>A (p.Val178Met) rs28941473 0.00034
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_004667.6(HERC2):c.10021C>T (p.Gln3341Ter) rs371406398 0.00024
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_001354768.3(NRL):c.654del (p.Cys219fs) rs761024023 0.00019
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449 0.00019
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) rs542692632 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs) rs774193816 0.00010
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_000256.3(MYBPC3):c.1224-80G>A rs1025692267 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met) rs121909835 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp) rs372246702 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) rs752140135 0.00006
NM_152732.5(RSPH9):c.2T>C (p.Met1Thr) rs1395940101 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00004
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys) rs374823079 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) rs121917883 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_000073.3(CD3G):c.205A>T (p.Lys69Ter) rs199676861 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912 0.00003
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000350.3(ABCA4):c.4539+2001G>A rs1457937638 0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys) rs768737101 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=) rs776221160 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu) rs745636376 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) rs148410166 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000243.3(MEFV):c.2296A>C (p.Asn766His) rs148707371 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val) rs730880694 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.6386+2C>G rs61753043 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959 0.00001
NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter) rs770564267 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs) rs1553940935 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro) rs782024654 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) rs281860303 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988 0.00001
NM_014712.3(SETD1A):c.4582-2_4582-1del rs755127868 0.00001
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) rs375459945 0.00001
NM_020549.5(CHAT):c.1288G>A (p.Val430Met) rs745991038 0.00001
NM_020964.3(EPG5):c.5869+1G>A rs748670315 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe) rs121908286 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter) rs753180214 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_198253.3(TERT):c.2312C>T (p.Pro771Leu) rs1309399887 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000091.5(COL4A3):c.2881G>C (p.Gly961Arg) rs1285576172
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp) rs1014839148
NM_000092.5(COL4A4):c.1848del (p.Pro617fs) rs2150476941
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp) rs2150277040
NM_000092.5(COL4A4):c.3289+1G>T rs1973128133
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.1464dup (p.Asp489fs) rs2039213824
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser) rs587779231
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000238.4(KCNH2):c.1708G>T (p.Ala570Ser) rs1727086844
NM_000238.4(KCNH2):c.260T>C (p.Leu87Pro) rs199473495
NM_000251.3(MSH2):c.1661+5G>T rs267607972
NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg) rs63750234
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.415G>T (p.Val139Leu) rs2138684666
NM_000257.4(MYH7):c.495G>A (p.Met165Ile) rs1555338758
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile) rs121965084
NM_000266.4(NDP):c.112C>T (p.Arg38Cys) rs758550101
NM_000268.4(NF2):c.422T>C (p.Leu141Pro) rs2146894322
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000314.8(PTEN):c.461T>G (p.Phe154Cys) rs1313989099
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000335.5(SCN5A):c.2320del (p.Tyr774fs) rs2125881165
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala) rs1368508052
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000431.4(MVK):c.925G>A (p.Gly309Ser) rs104895305
NM_000432.4(MYL2):c.286G>A (p.Glu96Lys) rs2136770901
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000451.4(SHOX):c.278-2A>G rs2124165256
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000490.5(AVP):c.260C>A (p.Ser87Tyr) rs121964890
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000539.3(RHO):c.569A>G (p.Asp190Gly) rs104893777
NM_000539.3(RHO):c.937-2A>C rs1578281565
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val) rs1057518988
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923
NM_001018005.2(TPM1):c.607A>G (p.Asn203Asp) rs1555409523
NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs) rs2147190470
NM_001042492.3(NF1):c.1063-2A>G rs1060500358
NM_001042492.3(NF1):c.3113+1G>C rs267606599
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln) rs2125194268
NM_001080517.3(SETD5):c.3520C>T (p.Arg1174Ter) rs1559496157
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser) rs1556862958
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001128228.3(TPRN):c.1402dup (p.Gln468fs) rs760851760
NM_001139.3(ALOX12B):c.769C>G (p.His257Asp) rs1233776328
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001172509.2(SATB2):c.1474C>T (p.Gln492Ter) rs2105789154
NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr) rs1749930972
NM_001195553.2(DCX):c.540G>T (p.Lys180Asn) rs1927758267
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs) rs1349668884
NM_001256789.3(CACNA1F):c.1075G>A (p.Gly359Arg) rs2147921112
NM_001256789.3(CACNA1F):c.522-16G>A rs2147924614
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.102510G>A (p.Trp34170Ter) rs1559033550
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs) rs2154347788
NM_001267550.2(TTN):c.40603A>T (p.Lys13535Ter) rs2154238618
NM_001267550.2(TTN):c.44077del (p.Arg14693fs) rs2154220127
NM_001267550.2(TTN):c.5209G>T (p.Glu1737Ter) rs2154346241
NM_001267550.2(TTN):c.52334_52335del (p.Val17445fs) rs2055522786
NM_001267550.2(TTN):c.54648_54649dup (p.Ser18217fs) rs2154194688
NM_001267550.2(TTN):c.60124C>T (p.Gln20042Ter) rs2154185146
NM_001267550.2(TTN):c.62246del (p.Gly20749fs) rs2154183801
NM_001267550.2(TTN):c.63794-1G>A rs2049262622
NM_001267550.2(TTN):c.65042del (p.Asp21681fs) rs2154179867
NM_001267550.2(TTN):c.66020_66021del (p.Ser22007fs) rs2154178179
NM_001267550.2(TTN):c.67667del (p.Pro22556fs) rs2154175408
NM_001267550.2(TTN):c.71000G>A (p.Trp23667Ter) rs865930770
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs) rs1254650118
NM_001267550.2(TTN):c.82309_82312dup (p.Asn27438delinsArgTer) rs2154161683
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter) rs794729298
NM_001267550.2(TTN):c.87165T>A (p.Tyr29055Ter) rs756211633
NM_001267550.2(TTN):c.87782del (p.Pro29261fs) rs2154155647
NM_001267550.2(TTN):c.92847C>G (p.Tyr30949Ter) rs2154147680
NM_001267550.2(TTN):c.97427dup (p.Thr32477fs) rs2154142450
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001292034.3(TAB2):c.899C>A (p.Ser300Ter) rs2114885719
NM_001318510.2(ACSL4):c.1586G>A (p.Arg529His) rs1569420470
NM_001320.7(CSNK2B):c.107T>C (p.Leu36Pro) rs2151185393
NM_001330260.2(SCN8A):c.4378A>G (p.Ile1460Val) rs2138909633
NM_001348716.2(KDM6B):c.1018del (p.Arg340fs)
NM_001348716.2(KDM6B):c.1053_1056del (p.Ala352fs)
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001348716.2(KDM6B):c.1229_1233dup (p.Gly412fs)
NM_001348716.2(KDM6B):c.1260_1270del (p.Gly421fs)
NM_001348716.2(KDM6B):c.138-1G>A rs2078522740
NM_001348716.2(KDM6B):c.138-2A>G
NM_001348716.2(KDM6B):c.1416_1417del (p.Cys473fs) rs2078587931
NM_001348716.2(KDM6B):c.1439dup (p.Pro481fs)
NM_001348716.2(KDM6B):c.1483C>T (p.Arg495Ter) rs1597842212
NM_001348716.2(KDM6B):c.1537dup (p.Arg513fs)
NM_001348716.2(KDM6B):c.1769del (p.Pro590fs)
NM_001348716.2(KDM6B):c.2012_2013del (p.Leu670_Phe671insTer)
NM_001348716.2(KDM6B):c.2125G>T (p.Glu709Ter)
NM_001348716.2(KDM6B):c.2134C>T (p.Gln712Ter)
NM_001348716.2(KDM6B):c.2448C>G (p.Tyr816Ter)
NM_001348716.2(KDM6B):c.2572C>T (p.Gln858Ter)
NM_001348716.2(KDM6B):c.2598del (p.Ser867fs)
NM_001348716.2(KDM6B):c.2690_2703del (p.Gln897fs)
NM_001348716.2(KDM6B):c.2699del (p.Pro900fs)
NM_001348716.2(KDM6B):c.2865del (p.Ala956fs)
NM_001348716.2(KDM6B):c.2923C>T (p.Arg975Ter) rs2078638223
NM_001348716.2(KDM6B):c.2970dup (p.Lys991Ter)
NM_001348716.2(KDM6B):c.2985_2988delinsGGGACAGTGCC (p.Arg996fs)
NM_001348716.2(KDM6B):c.3038del (p.Lys1013fs)
NM_001348716.2(KDM6B):c.3046dup (p.Arg1016fs) rs2151378140
NM_001348716.2(KDM6B):c.3281C>A (p.Ser1094Ter)
NM_001348716.2(KDM6B):c.3288_3291del (p.Ser1096fs)
NM_001348716.2(KDM6B):c.3300del (p.Lys1101fs)
NM_001348716.2(KDM6B):c.343C>T (p.Gln115Ter)
NM_001348716.2(KDM6B):c.3535dup (p.Glu1179fs)
NM_001348716.2(KDM6B):c.3564_3567delCTAT (p.Tyr1189fs)
NM_001348716.2(KDM6B):c.3674-2A>G
NM_001348716.2(KDM6B):c.3762_3764del (p.Asp1254del)
NM_001348716.2(KDM6B):c.3911_3912del (p.Glu1304fs)
NM_001348716.2(KDM6B):c.3944+1G>A
NM_001348716.2(KDM6B):c.4020_4021delinsAT (p.Trp1340_Lys1341delinsTer)
NM_001348716.2(KDM6B):c.403C>T (p.Arg135Ter) rs957520585
NM_001348716.2(KDM6B):c.4118T>C (p.Met1373Thr)
NM_001348716.2(KDM6B):c.4165+2T>A
NM_001348716.2(KDM6B):c.4174G>A (p.Glu1392Lys)
NM_001348716.2(KDM6B):c.4186T>A (p.Phe1396Ile)
NM_001348716.2(KDM6B):c.4187_4189del (p.Phe1396del)
NM_001348716.2(KDM6B):c.4193C>A (p.Ser1398Tyr)
NM_001348716.2(KDM6B):c.419dup (p.Ala141fs)
NM_001348716.2(KDM6B):c.4222T>C (p.Cys1408Arg)
NM_001348716.2(KDM6B):c.4431G>A (p.Trp1477Ter) rs2151379742
NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter) rs1419917079
NM_001348716.2(KDM6B):c.4468+5G>C
NM_001348716.2(KDM6B):c.4500C>A (p.Tyr1500Ter)
NM_001348716.2(KDM6B):c.4696C>A (p.Arg1566Ser)
NM_001348716.2(KDM6B):c.4708G>T (p.Glu1570Ter)
NM_001348716.2(KDM6B):c.4724G>C (p.Cys1575Ser)
NM_001348716.2(KDM6B):c.4733del (p.Cys1578fs)
NM_001348716.2(KDM6B):c.4737+1G>A rs2151380267
NM_001348716.2(KDM6B):c.4795del (p.Leu1599fs)
NM_001348716.2(KDM6B):c.496C>T (p.Arg166Ter) rs2078539742
NM_001348716.2(KDM6B):c.523C>T (p.Gln175Ter)
NM_001348716.2(KDM6B):c.578del (p.Gly193fs)
NM_001348716.2(KDM6B):c.654_655del (p.Glu220fs)
NM_001348716.2(KDM6B):c.685C>T (p.Arg229Ter)
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001349338.3(FOXP1):c.1653-31_1653-26del rs2107157863
NM_001356.5(DDX3X):c.1156C>T (p.Pro386Ser) rs2147356322
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001370259.2(MEN1):c.1052A>G (p.Tyr351Cys) rs2136111524
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys) rs1555410941
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser) rs62637035
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001453.3(FOXC1):c.392C>G (p.Ser131Trp) rs104893957
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter) rs769390195
NM_001458.5(FLNC):c.3180del (p.Asp1061fs) rs1064795229
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs) rs2128939508
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg) rs80358313
NM_002448.3(MSX1):c.469+5G>C rs2108777804
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln) rs1647932465
NM_002529.4(NTRK1):c.359+5G>T rs1571685765
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp) rs121918514
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_003060.4(SLC22A5):c.825-1G>C rs1057516805
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_003482.4(KMT2D):c.1258+5G>A rs2120689175
NM_004086.3(COCH):c.259G>T (p.Gly87Trp) rs2138843742
NM_004183.4(BEST1):c.244C>G (p.Leu82Val) rs281865530
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004187.5(KDM5C):c.1793C>T (p.Pro598Leu) rs1556842216
NM_004281.4(BAG3):c.1257dup (p.Pro420fs) rs2134069115
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_005032.7(PLS3):c.1262+1G>A rs868979288
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005208.5(CRYBA1):c.500+1G>C rs775038545
NM_005247.4(FGF3):c.310dup (p.Arg104fs) rs2119929795
NM_005422.4(TECTA):c.5383+5G>A rs2135128822
NM_005633.4(SOS1):c.1009T>C (p.Tyr337His) rs2124562542
NM_006005.3(WFS1):c.1289C>G (p.Ser430Trp) rs1235562712
NM_006005.3(WFS1):c.1511C>G (p.Pro504Arg) rs28937892
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile) rs1057517908
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006662.3(SRCAP):c.1143_1153delinsTGT (p.Pro382fs) rs2151287951
NM_006662.3(SRCAP):c.1174C>T (p.Gln392Ter) rs1555463754
NM_006662.3(SRCAP):c.148del (p.His50fs) rs2052800289
NM_006662.3(SRCAP):c.1608_1611delinsCA (p.Gln537fs) rs2151288511
NM_006662.3(SRCAP):c.1793del (p.Gly598fs) rs2151288590
NM_006662.3(SRCAP):c.2518C>T (p.Arg840Ter) rs1232266542
NM_006662.3(SRCAP):c.3833C>A (p.Ser1278Ter) rs755307689
NM_006662.3(SRCAP):c.3893-2A>G rs2151293617
NM_006662.3(SRCAP):c.3989C>T (p.Ala1330Val) rs2151293657
NM_006662.3(SRCAP):c.4200_4204del (p.Leu1401fs) rs2151293907
NM_006662.3(SRCAP):c.435del (p.Gln145fs) rs2151286256
NM_006662.3(SRCAP):c.4557_4560del (p.Gln1519fs) rs1567248015
NM_006662.3(SRCAP):c.4648del (p.Val1550fs) rs2151294192
NM_006662.3(SRCAP):c.4925T>A (p.Leu1642Ter) rs2151294378
NM_006662.3(SRCAP):c.5102_5103del (p.Ser1701fs) rs2151294456
NM_006662.3(SRCAP):c.5387del (p.Pro1796fs) rs2151294574
NM_006662.3(SRCAP):c.5461delinsAGA (p.Ser1821fs) rs1555464955
NM_006662.3(SRCAP):c.55-1G>A rs2151284583
NM_006662.3(SRCAP):c.5527del (p.Val1843fs) rs2151294647
NM_006662.3(SRCAP):c.5549_5556del (p.Thr1850fs) rs2151294652
NM_006662.3(SRCAP):c.5633dup (p.Pro1879fs) rs748467821
NM_006662.3(SRCAP):c.5977_5980del (p.Cys1993fs) rs2151296560
NM_006662.3(SRCAP):c.5984del (p.Pro1995fs) rs2151296564
NM_006662.3(SRCAP):c.6208C>T (p.Arg2070Ter) rs2151298248
NM_006662.3(SRCAP):c.6889del (p.Arg2297fs) rs2151299623
NM_006662.3(SRCAP):c.6901del (p.Glu2301fs) rs2151299633
NM_006662.3(SRCAP):c.833del (p.Pro278fs) rs886041787
NM_006662.3(SRCAP):c.8592dup (p.Lys2865fs) rs2053186315
NM_006662.3(SRCAP):c.9126dup (p.Gln3043fs) rs2151301216
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln) rs2131299400
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg) rs2137241977
NM_015884.4(MBTPS2):c.1499G>A (p.Gly500Asp) rs2147456007
NM_015915.5(ATL1):c.488T>C (p.Val163Ala) rs1595600383
NM_017755.6(NSUN2):c.466-49_507del rs2126501368
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys) rs2150779357
NM_018196.4(TMLHE):c.638+2del rs2124340926
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_020366.4(RPGRIP1):c.1948C>T (p.Pro650Ser) rs1740380459
NM_020774.4(MIB1):c.198C>A (p.Tyr66Ter) rs765597017
NM_022437.3(ABCG8):c.965-1G>C rs957176669
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu) rs587784155
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024528.4(NKAP):c.989G>A (p.Arg330His) rs1603379780
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_031263.4(HNRNPK):c.989G>A (p.Gly330Glu) rs2133028167
NM_052867.4(NALCN):c.3511G>A (p.Asp1171Asn) rs2139519333
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs) rs1380822792
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly) rs768528444
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_170606.3(KMT2C):c.8390dup (p.Glu2798fs) rs747256476
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del) rs267607540
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys) rs869312849
NM_177559.3(CSNK2A1):c.832C>T (p.Arg278Ter) rs2018126184
NM_181332.3(NLGN4X):c.301C>T (p.Arg101Ter) rs756651509
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr) rs796065306
NM_206933.4(USH2A):c.1965T>G (p.Cys655Trp) rs1558366840
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826

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.