ClinVar Miner

List of variants studied for dementia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (242):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 461
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096 0.00080
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_003793.4(CTSF):c.1046-2A>C rs141915593 0.00025
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000033.4(ABCD1):c.1780+4G>A rs193922095 0.00014
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) rs779746050 0.00008
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909 0.00006
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 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_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360 0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile) rs752078407 0.00004
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter) rs373493102 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) rs121908195 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476 0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.436del (p.Val146fs) rs1057517174 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000520.6(HEXA):c.571-1G>T rs185429231 0.00002
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr) rs779453450 0.00002
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln) rs1352786910 0.00002
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) rs386833695 0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697 0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp) rs753376100 0.00002
NM_003560.4(PLA2G6):c.1262del (p.Val421fs) rs1282370486 0.00002
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) rs121908681 0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val) rs764957976 0.00002
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_025233.7(COASY):c.1237+1G>C rs770235902 0.00002
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg) rs200133991 0.00002
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227 0.00001
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_000096.4(CP):c.656T>A (p.Val219Glu) rs587780321 0.00001
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp) rs143657539 0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) rs386833655 0.00001
NM_000310.4(PPT1):c.628-1G>T rs386833659 0.00001
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro) rs386833661 0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His) rs386833665 0.00001
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195 0.00001
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) rs764256845 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp) rs867538940 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr) rs199476341 0.00001
NM_000487.6(ARSA):c.684+1G>A rs146371968 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.855-1G>A rs754898479 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) rs121907981 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585 0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter) rs1555475519 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=) rs28942072 0.00001
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) rs1749680051 0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452 0.00001
NM_000521.4(HEXB):c.1508+1G>A rs758459585 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro) rs778501777 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.611G>A (p.Gly204Glu) rs762821794 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_001042432.2(CLN3):c.1198-1G>T rs386833702 0.00001
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly) rs386833703 0.00001
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709 0.00001
NM_001257180.2(SLC20A2):c.1794+1G>C rs1052304545 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys) rs1555787646 0.00001
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) rs368008077 0.00001
NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter) rs886039552 0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386 0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 0.00001
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu) rs760271120 0.00001
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) rs1381427322 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg) rs746645358 0.00001
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys) rs387907040 0.00001
NM_024306.5(FA2H):c.806G>A (p.Arg269His) rs1429546236 0.00001
NM_025233.7(COASY):c.1495C>T (p.Arg499Cys) rs140709867 0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) rs515726205 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NC_000003.11:g.(?_148890285)_(148939833_?)del
NC_000004.11:g.(128859994_128861007)_(128865148_128870958)del
NC_000004.11:g.(128878748_128886226)_(128887140_?)del
NC_000005.9:g.(?_73980968)_(73992932_74001043)del
NC_000005.9:g.(?_73981057)_(73992932_74001043)del
NC_000015.9:g.(72636482_72637786)_(72639052_72640026)del
NC_000015.9:g.(72648959_72668060)_(72668815_?)del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000016.9:g.(?_28488599)_(28495440_28497667)del
NC_000022.10:g.(?_51061181)_(51066581_?)del
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe) rs63751316
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.437T>C (p.Met146Thr)
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala) rs63751229
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu) rs63750779
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) rs63750231
NM_000033.4(ABCD1):c.*208G>C rs193922092
NM_000033.4(ABCD1):c.1076_1077del (p.Glu359fs) rs1569540883
NM_000033.4(ABCD1):c.1111del (p.Glu371fs)
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His) rs1557055447
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) rs1057516052
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp) rs1603232195
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.900+2T>C rs2091712381
NM_000046.5(ARSB):c.219_230delinsG (p.Asp73fs) rs1561197425
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2756T>C (p.Leu919Pro) rs1135401784
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg) rs104895127
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del) rs386833637
NM_000310.4(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.4(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.4(PPT1):c.708_712delinsAGA (p.Pro238fs)
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1076-2A>G rs1424116749
NM_000391.4(TPP1):c.1146-1G>A rs1131691676
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs) rs1855559514
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs) rs759664259
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) rs752164603
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter) rs1405952769
NM_000391.4(TPP1):c.829G>A (p.Val277Met) rs121908207
NM_000391.4(TPP1):c.89+5G>C rs746085696
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) rs281865161
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1108-1G>C rs2146718041
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1210+1G>T rs80338820
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1227_1228del (p.Thr410fs) rs2082647866
NM_000487.6(ARSA):c.1228_1229del (p.Thr410fs) rs2146716979
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.6(ARSA):c.1274A>G (p.His425Arg) rs1135401757
NM_000487.6(ARSA):c.1344dup (p.Gly449fs) rs761555167
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.200del (p.Pro67fs) rs2082697802
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro) rs199476351
NM_000487.6(ARSA):c.211_212del (p.Cys71fs) rs1057516288
NM_000487.6(ARSA):c.240dup (p.Gly81fs) rs786204599
NM_000487.6(ARSA):c.244del (p.Arg82fs) rs1569081823
NM_000487.6(ARSA):c.257G>T (p.Arg86Leu) rs74315458
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.302dup (p.Leu102fs) rs761606317
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.495_501del (p.Pro166fs) rs1057517429
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser) rs199476342
NM_000487.6(ARSA):c.854+1G>A rs886041911
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter) rs199476360
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390
NM_000487.6(ARSA):c.979_979+3del rs1057516887
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419
NM_000520.4(HEXA):c.-2564_253+5128delinsG
NM_000520.6(HEXA):c.1039_1056del (p.Asp347_Glu352del)
NM_000520.6(HEXA):c.103C>T (p.Gln35Ter) rs2089059318
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1171G>A (p.Val391Met) rs2140320821
NM_000520.6(HEXA):c.1183del (p.Asp395fs) rs770303210
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1435del (p.Ala479fs) rs2088601317
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1525_1526+27del rs2140319516
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.413-2A>G rs2088733862
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.496del (p.Arg166fs) rs2088724288
NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer) rs2088690482
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) rs121907959
NM_000520.6(HEXA):c.778C>T (p.Pro260Ser)
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.987G>A (p.Trp329Ter) rs121907967
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1418-12_1418del rs1554037076
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1529_1550dup (p.Lys517_Asp518insTer)
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000521.4(HEXB):c.171del (p.Trp57fs) rs771973471
NM_000521.4(HEXB):c.445+1G>A rs761197472
NM_000521.4(HEXB):c.512-1G>T rs1554035308
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter) rs1749120310
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.558+1G>C rs1198764997
NM_000521.4(HEXB):c.703C>T (p.His235Tyr) rs1554035822
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.108del (p.Ser37fs)
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.58del (p.Leu20fs) rs2106479076
NM_001020658.2(PUM1):c.1773del (p.Ser592fs) rs1640658015
NM_001029896.2(WDR45):c.52C>T (p.Gln18Ter) rs1569523562
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter) rs387907329
NM_001031726.4(C19orf12):c.164_166delGGG rs398122409
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.2(CLN3):c.1056+3A>C rs386833698
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_001042432.2(CLN3):c.1075del (p.Leu359fs) rs2046023126
NM_001042432.2(CLN3):c.1197+1G>A
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_001042432.2(CLN3):c.240del (p.Pro81fs) rs748710466
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_001042432.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_001042432.2(CLN3):c.790+532_1056+1445del
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042432.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001257180.2(SLC20A2):c.649del (p.Leu217fs)
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp) rs1043984708
NM_001371596.2(MFSD8):c.215del (p.Asp72fs)
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_001371596.2(MFSD8):c.847T>G (p.Phe283Val)
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) rs2124927471
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del) rs397515475
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
NM_001386393.1(PANK2):c.-21G>T rs780551883
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) rs137852963
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)
NM_001386393.1(PANK2):c.1358T>C (p.Leu453Pro)
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter) rs137852960
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs) rs750440690
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter) rs777414421
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs) rs1555788619
NM_001909.5(CTSD):c.268del (p.Gln90fs) rs752612332
NM_002608.4(PDGFB):c.445C>T (p.Arg149Ter) rs397515633
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro) rs121918110
NM_002778.4(PSAP):c.1A>G (p.Met1Val) rs121918106
NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg) rs1569263730
NM_003560.4(PLA2G6):c.1294del (p.His432fs)
NM_003560.4(PLA2G6):c.1427+1G>C rs750939090
NM_003560.4(PLA2G6):c.1715C>T (p.Thr572Ile)
NM_003560.4(PLA2G6):c.1743-2A>G
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) rs776713955
NM_003560.4(PLA2G6):c.1982C>T (p.Thr661Met)
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003793.4(CTSF):c.105_129del (p.Ser36fs)
NM_003793.4(CTSF):c.1119dup (p.Lys374fs)
NM_003793.4(CTSF):c.130del (p.Arg44fs) rs1857984449
NM_003793.4(CTSF):c.167_186del (p.Ala56fs)
NM_003793.4(CTSF):c.264del (p.Cys89fs)
NM_003793.4(CTSF):c.593_594del (p.Thr197_Tyr198insTer)
NM_003793.4(CTSF):c.993_1004delinsTGCCTACT (p.Lys331fs) rs2134951897
NM_004115.4(FGF14):c.408+1G>A
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.155_167del (p.His52fs) rs1057517134
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter) rs869312751
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006796.3(AFG3L2):c.1651C>T (p.Arg551Ter)
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp) rs1941669517
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del) rs1554985851
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter) rs757203783
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) rs2093262869
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr) rs2141136108
NM_017882.3(CLN6):c.829_836delinsCCT (p.Val277fs)
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_018941.4(CLN8):c.43del (p.Asp15fs)
NM_018941.4(CLN8):c.562_563del (p.Leu188fs) rs386834132
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.4(CLN8):c.725del (p.Thr242fs) rs2129015276
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1600C>T (p.Gln534Ter)
NM_022089.4(ATP13A2):c.2097del (p.Ser700fs)
NM_022089.4(ATP13A2):c.3281del (p.Gly1094fs)
NM_022089.4(ATP13A2):c.352G>T (p.Glu118Ter)
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
NM_024306.5(FA2H):c.131C>A (p.Pro44Gln) rs915291720
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu) rs372350326
NM_025000.4(DCAF17):c.1488_1489del (p.Arg496fs) rs778488574
NM_025000.4(DCAF17):c.499_500insGA (p.Lys167fs)
NM_025233.7(COASY):c.1068_1069del (p.Cys357fs)
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_025233.7(COASY):c.1549_1550del (p.Ser517fs) rs766482965
NM_025233.7(COASY):c.492del (p.Glu164fs) rs2143196984
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu) rs752450983
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) rs515726204
NM_031448.6(C19orf12):c.267del (p.Phe89fs)
NM_033305.3(VPS13A):c.1195_1198del (p.Ile398_Thr399insTer)
NM_153033.5(KCTD7):c.393C>G (p.Tyr131Ter)
NM_153033.5(KCTD7):c.604del (p.Tyr202fs)
NM_153033.5(KCTD7):c.731del (p.Leu244fs) rs2116775575
NM_153638.4(PANK2):c.42_67del (p.Ala15fs) rs760822872
NM_153638.4(PANK2):c.68_69insTG (p.His24fs)
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538
NM_198994.2(TGM6):c.425_435del11 rs1222726216

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