ClinVar Miner

List of variants reported as pathogenic by Centogene AG - the Rare Disease Company

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 406
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_004562.3(PRKN):c.101_102del (p.Gln34fs) rs55777503 0.00027
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000270.4(PNP):c.172C>T (p.Arg58Ter) rs104894460 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_004562.3(PRKN):c.167T>A (p.Val56Glu) rs137853059 0.00006
NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter) rs752352896 0.00006
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) rs28936701 0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00004
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192 0.00004
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) rs34208370 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) rs758447515 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter) rs202166715 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001364905.1(LRBA):c.4333C>T (p.Arg1445Ter) rs764745197 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) rs201128942 0.00003
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val) rs730880963 0.00002
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) rs72551349 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419 0.00002
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr) rs752148586 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001171.6(ABCC6):c.2248-2_2248-1del rs111113624 0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp) rs766285158 0.00002
NM_006907.4(PYCR1):c.540+1G>A rs752297179 0.00002
NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg) rs781637328 0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 0.00002
NM_000045.4(ARG1):c.466-1G>C rs1064794165 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys) rs779440632 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) rs1270523244 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp) rs747709527 0.00001
NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter) rs1348610360 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) rs387907083 0.00001
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs) rs782172072 0.00001
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter) rs121909105 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter) rs137852669 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter) rs764125510 0.00001
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer) rs794727794 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg) rs387906987 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858 0.00001
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) rs121908367 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_152906.7(TANGO2):c.418C>T (p.Arg140Ter) rs764883927 0.00001
NC_000002.12:g.110069919_110205214del
NC_000007.13:g.141443350_142460881dup
NC_000007.14:g.142749126_142753040dup
NC_000011.9:g.104288964_134937416dup
NC_000020.11:g.3863511_3918336del
NC_000022.10:g.21514655_22986816del
NC_000023.11:g.101398823_101398824ins(300)
NC_000023.11:g.155985220_155986351delinsT
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000037.4(ANK1):c.1717del (p.Leu573fs) rs1826989524
NM_000046.5(ARSB):c.264G>T (p.Gln88His) rs750947605
NM_000049.4(ASPA):c.692A>G (p.Tyr231Cys) rs104894550
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter) rs1183423966
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter) rs1927036604
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000062.3(SERPING1):c.600dup (p.Lys201fs) rs1590823884
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del) rs748289906
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.2010del (p.Gly671fs) rs72651634
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.345del (p.Pro116fs) rs749390823
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter) rs2149720690
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000138.5(FBN1):c.5636G>A (p.Gly1879Asp) rs2043178850
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000155.4(GALT):c.377+1G>T rs111033681
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000169.3(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.3(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000203.5(IDUA):c.1190-10_*10del
NM_000214.3(JAG1):c.1731C>G (p.Ser577Arg) rs2122606362
NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) rs118204081
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs) rs727504366
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp) rs2092906798
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000271.4(NPC1):c.2134_2135del
NM_000271.4(NPC1):c.3249_3250del
NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)
NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter) rs1278305591
NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)
NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)
NM_000271.5(NPC1):c.1238dup (p.Leu414fs)
NM_000271.5(NPC1):c.1451del (p.Val484fs)
NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)
NM_000271.5(NPC1):c.1628del (p.Pro543fs) rs1555635957
NM_000271.5(NPC1):c.1654+1dup
NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)
NM_000271.5(NPC1):c.1757+1G>T
NM_000271.5(NPC1):c.1757+2T>G
NM_000271.5(NPC1):c.1757+2_1757+3del
NM_000271.5(NPC1):c.2077del (p.Leu693fs)
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.2130+1G>C
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)
NM_000271.5(NPC1):c.2515-2A>G
NM_000271.5(NPC1):c.2604+2T>G
NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr) rs2058690179
NM_000271.5(NPC1):c.2612del (p.Tyr871fs)
NM_000271.5(NPC1):c.2647del (p.Leu883fs)
NM_000271.5(NPC1):c.2719del (p.Met907fs)
NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)
NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)
NM_000271.5(NPC1):c.2908dup (p.Ser970fs)
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3003del (p.Met1001fs)
NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu) rs764789542
NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)
NM_000271.5(NPC1):c.3041+1G>T
NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)
NM_000271.5(NPC1):c.3245+1G>T
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter) rs774602107
NM_000271.5(NPC1):c.3281del (p.Ile1094fs)
NM_000271.5(NPC1):c.3347del (p.Leu1116fs)
NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3559del (p.Ala1187fs)
NM_000271.5(NPC1):c.370dup (p.Thr124fs)
NM_000271.5(NPC1):c.428_429del (p.Glu143fs)
NM_000271.5(NPC1):c.692_693del (p.Val231fs)
NM_000271.5(NPC1):c.749_755del (p.Lys250fs)
NM_000271.5(NPC1):c.754del (p.Gln252fs)
NM_000271.5(NPC1):c.762del (p.Pro255fs)
NM_000271.5(NPC1):c.895del (p.Val299fs)
NM_000271.5(NPC1):c.924_927del (p.Asn308fs)
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000344.4(SMN1):c.724_885del (p.Ile242_Ter295del)
NM_000404.4(GLB1):c.1254C>G (p.Tyr418Ter) rs1697338499
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer) rs767704163
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs) rs886039482
NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter) rs148792791
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000487.6(ARSA):c.583del (p.Trp195fs) rs398123416
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000528.4(MAN2B1):c.1644+4A>G rs1218254964
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) rs748411156
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000548.5(TSC2):c.848+281C>T rs45517132
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs) rs1204840140
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001008222.3(ZDHHC9):c.286C>T (p.Arg96Trp) rs1131690786
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter) rs1557084120
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs) rs398123561
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
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.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127511.3(APC):c.-190G>A rs879253785
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter) rs1745753552
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001167.4(XIAP):c.-10_977+11del
NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter) rs397514551
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met) rs1588307464
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_001347721.2(DYRK1A):c.986dup (p.Tyr329Ter)
NM_001368894.2(PAX6):c.11-218_565+80del
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs) rs1912903065
NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter)
NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs) rs756797124
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.6101del (p.Gly2034fs) rs2145519321
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) rs281875325
NM_001733.7(C1R):c.1427_1428dup (p.Trp477fs) rs1938056582
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln) rs104894311
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_003482.4(KMT2D):c.2488G>T (p.Glu830Ter) rs1286510393
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln) rs769259446
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004006.3(DMD):c.1087C>T (p.Gln363Ter) rs2059695805
NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs) rs1554886816
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp) rs1554689320
NM_005859.5(PURA):c.812_814del (p.Phe271del) rs587782991
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val) rs1555641324
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) rs397514565
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly) rs587777512
NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter) rs104893720
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs) rs397507194
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2054_2055del (p.Lys685fs) rs2151761605
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu) rs141028076
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter) rs878853280
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs)
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_017755.6(NSUN2):c.1020del (p.Gly341fs) rs1579368865
NM_017799.4(TMEM260):c.1698_1701del (p.Tyr567fs) rs1085307449
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020632.3(ATP6V0A4):c.2140-61_2257+166del rs1803996097
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_022455.5(NSD1):c.1727dup (p.Asn576fs) rs1299932363
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024884.3(L2HGDH):c.1065-13_1196+207del rs1889265791
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_031407.7(HUWE1):c.646-1G>A rs2149065229
NM_032801.5(JAM3):c.612+1G>T rs761700427
NM_033380.3(COL4A5):c.1374delinsTT (p.Pro459fs) rs2147798059
NM_033380.3(COL4A5):c.1418_1419del (p.Val473fs) rs2147798228
NM_033380.3(COL4A5):c.347del (p.Pro116fs) rs2147746687
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_138927.4(SON):c.5717_5720del (p.Arg1906fs) rs1382415023
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) rs1553957883
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
UGT1A1*28 rs3064744

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.