ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 6 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_004960.4(FUS):c.291C>T (p.Tyr97=) rs1052352 0.45484
NM_004960.4(FUS):c.147C>A (p.Gly49=) rs741810 0.24179
NM_004960.4(FUS):c.190+9T>C rs73530283 0.06048
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_004960.4(FUS):c.1156C>A (p.Arg386=) rs61733965 0.01496
NM_004960.4(FUS):c.524-5C>T rs73530287 0.01495
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_004960.4(FUS):c.636C>T (p.Asp212=) rs147528034 0.00282
NM_004960.4(FUS):c.273C>T (p.Tyr91=) rs73530286 0.00196
NM_004960.4(FUS):c.675C>T (p.Gly225=) rs140003720 0.00179
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_004960.4(FUS):c.1464C>T (p.Gly488=) rs150529460 0.00075
NM_004960.4(FUS):c.198T>C (p.Tyr66=) rs144853447 0.00056
NM_004960.4(FUS):c.404G>A (p.Ser135Asn) rs61732970 0.00056
NM_004960.4(FUS):c.336-19_336-18insG rs146048051 0.00036
NM_004960.4(FUS):c.684C>T (p.Gly228=) rs151073460 0.00034
NM_004960.4(FUS):c.188A>G (p.Asn63Ser) rs140883211 0.00033
NM_004960.4(FUS):c.47C>T (p.Ala16Val) rs139980267 0.00032
NM_004960.4(FUS):c.764+12A>C rs143916861 0.00024
NM_004960.4(FUS):c.1080C>T (p.Ser360=) rs190724342 0.00022
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) rs267606832 0.00022
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) rs186547381 0.00016
NM_004960.4(FUS):c.132C>T (p.Ser44=) rs72550883 0.00015
NM_004960.4(FUS):c.*48G>A rs376510148 0.00014
NM_004960.4(FUS):c.1067-6C>T rs77813265 0.00014
NM_004960.4(FUS):c.687T>C (p.Gly229=) rs781445592 0.00014
NM_004960.4(FUS):c.543A>G (p.Gln181=) rs865823605 0.00012
NM_004960.4(FUS):c.1169-11A>G rs181859716 0.00010
NM_004960.4(FUS):c.661_663del (p.Ser221del) rs746633090 0.00010
NM_004960.4(FUS):c.222A>G (p.Gly74=) rs757454595 0.00009
NM_004960.4(FUS):c.339C>T (p.Tyr113=) rs770345118 0.00008
NM_004960.4(FUS):c.1461C>T (p.Arg487=) rs755870176 0.00006
NM_004960.4(FUS):c.630G>C (p.Gln210His) rs779124981 0.00006
NM_004960.4(FUS):c.66G>A (p.Gly22=) rs147877613 0.00006
NM_004960.4(FUS):c.833-17C>T rs376953672 0.00006
NM_004960.4(FUS):c.1176G>A (p.Met392Ile) rs751937417 0.00005
NM_004960.4(FUS):c.1248C>T (p.Gly416=) rs368780804 0.00005
NM_004960.4(FUS):c.799+13A>T rs374716753 0.00005
NM_004960.4(FUS):c.484A>C (p.Asn162His) rs200264565 0.00004
NM_004960.4(FUS):c.676G>A (p.Gly226Ser) rs758970940 0.00004
NM_004960.4(FUS):c.788A>G (p.Asn263Ser) rs144917373 0.00004
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser) rs201533156 0.00003
NM_004960.4(FUS):c.237C>T (p.Gly79=) rs535930927 0.00003
NM_004960.4(FUS):c.300T>C (p.Tyr100=) rs376424892 0.00003
NM_004960.4(FUS):c.335+19C>T rs773898038 0.00003
NM_004960.4(FUS):c.452C>T (p.Pro151Leu) rs144342946 0.00003
NM_004960.4(FUS):c.673G>A (p.Gly225Ser) rs551577399 0.00003
NM_004960.4(FUS):c.1204_1206del (p.Ser402del) rs781120756 0.00002
NM_004960.4(FUS):c.1452C>T (p.Tyr484=) rs372721739 0.00002
NM_004960.4(FUS):c.238G>A (p.Gly80Ser) rs776474571 0.00002
NM_004960.4(FUS):c.317C>T (p.Pro106Leu) rs374191107 0.00002
NM_004960.4(FUS):c.648C>T (p.Arg216=) rs556586630 0.00002
NM_004960.4(FUS):c.716A>G (p.Tyr239Cys) rs145013063 0.00002
NM_004960.4(FUS):c.90T>C (p.Ser30=) rs1485377976 0.00002
NM_004960.4(FUS):c.*108C>T rs780606789 0.00001
NM_004960.4(FUS):c.1147C>T (p.Arg383Cys) rs776191869 0.00001
NM_004960.4(FUS):c.1168+6G>C rs750980752 0.00001
NM_004960.4(FUS):c.1394G>A (p.Gly465Glu) rs141684472 0.00001
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) rs387906627 0.00001
NM_004960.4(FUS):c.1544G>T (p.Gly515Val) rs1307257028 0.00001
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) rs121909668 0.00001
NM_004960.4(FUS):c.174T>C (p.Tyr58=) rs780887876 0.00001
NM_004960.4(FUS):c.181A>G (p.Ser61Gly) rs1481060391 0.00001
NM_004960.4(FUS):c.182G>A (p.Ser61Asn) rs777365216 0.00001
NM_004960.4(FUS):c.191-10A>G rs771990569 0.00001
NM_004960.4(FUS):c.192A>G (p.Thr64=) rs776333956 0.00001
NM_004960.4(FUS):c.265T>A (p.Ser89Thr) rs372638663 0.00001
NM_004960.4(FUS):c.318C>T (p.Pro106=) rs200264709 0.00001
NM_004960.4(FUS):c.375C>G (p.Pro125=) rs368148475 0.00001
NM_004960.4(FUS):c.688G>T (p.Gly230Cys) rs748374535 0.00001
NM_004960.4(FUS):c.701G>A (p.Arg234His) rs749434237 0.00001
NM_004960.4(FUS):c.99C>T (p.Tyr33=) rs371503663 0.00001
NC_000016.10:g.(?_31182388)_(31194881_?)dup
NC_000016.10:g.31184376GAGGTG[6]
NM_004960.3(FUS):c.515_523+3del
NM_004960.3(FUS):c.521_523+3dup6
NM_004960.4(FUS):c.*132C>A rs565540429
NM_004960.4(FUS):c.1014G>A (p.Thr338=)
NM_004960.4(FUS):c.1014G>T (p.Thr338=) rs374933969
NM_004960.4(FUS):c.1055A>T (p.Asp352Val)
NM_004960.4(FUS):c.1066+14G>A
NM_004960.4(FUS):c.1067-15T>A
NM_004960.4(FUS):c.1067-16T>C
NM_004960.4(FUS):c.1067-17del
NM_004960.4(FUS):c.1086T>C (p.Asn362=)
NM_004960.4(FUS):c.1087C>G (p.Pro363Ala)
NM_004960.4(FUS):c.1111C>T (p.Arg371Cys) rs773141319
NM_004960.4(FUS):c.1125T>C (p.Phe375=)
NM_004960.4(FUS):c.1148G>A (p.Arg383His)
NM_004960.4(FUS):c.1157G>C (p.Arg386Pro)
NM_004960.4(FUS):c.1168+16C>T
NM_004960.4(FUS):c.1169-7G>A rs763718245
NM_004960.4(FUS):c.1171C>G (p.Pro391Ala) rs560450437
NM_004960.4(FUS):c.1190A>G (p.Tyr397Cys)
NM_004960.4(FUS):c.119G>C (p.Gly40Ala)
NM_004960.4(FUS):c.1234A>G (p.Ser412Gly)
NM_004960.4(FUS):c.1285C>T (p.Pro429Ser)
NM_004960.4(FUS):c.1292+20T>A
NM_004960.4(FUS):c.1292+22dup rs572228309
NM_004960.4(FUS):c.1293-13C>T
NM_004960.4(FUS):c.1317T>C (p.Ser439=) rs377010944
NM_004960.4(FUS):c.135G>T (p.Thr45=)
NM_004960.4(FUS):c.1369G>A (p.Gly457Arg)
NM_004960.4(FUS):c.1371_1373dup (p.Gly458_Pro459insGly)
NM_004960.4(FUS):c.1376C>T (p.Pro459Leu) rs1131691846
NM_004960.4(FUS):c.1377A>C (p.Pro459=)
NM_004960.4(FUS):c.1391_1392dup (p.Gly465fs) rs2144138894
NM_004960.4(FUS):c.1393+17T>C
NM_004960.4(FUS):c.1393+20T>G
NM_004960.4(FUS):c.1394-12C>T
NM_004960.4(FUS):c.1394-13del
NM_004960.4(FUS):c.1394-19C>A
NM_004960.4(FUS):c.1394-2del rs1555509569
NM_004960.4(FUS):c.1395G>T (p.Gly465=)
NM_004960.4(FUS):c.14-9C>G
NM_004960.4(FUS):c.1404C>T (p.Tyr468=) rs562029185
NM_004960.4(FUS):c.1414C>T (p.Arg472Cys) rs914056789
NM_004960.4(FUS):c.1436A>G (p.Tyr479Cys)
NM_004960.4(FUS):c.1446C>T (p.Gly482=) rs112061837
NM_004960.4(FUS):c.1449_1488del (p.Tyr484fs)
NM_004960.4(FUS):c.144A>G (p.Ser48=)
NM_004960.4(FUS):c.1451A>G (p.Tyr484Cys)
NM_004960.4(FUS):c.1453C>T (p.Arg485Trp)
NM_004960.4(FUS):c.1471C>A (p.Arg491Ser) rs753458243
NM_004960.4(FUS):c.1500dup (p.Gly501fs) rs2144140268
NM_004960.4(FUS):c.1506C>T (p.Asp502=)
NM_004960.4(FUS):c.1509_1510del (p.Gly504fs) rs1596912983
NM_004960.4(FUS):c.1509_1510dup (p.Gly504fs) rs1596912983
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp) rs267606831
NM_004960.4(FUS):c.1528A>G (p.Lys510Glu)
NM_004960.4(FUS):c.1531dup (p.Met511fs)
NM_004960.4(FUS):c.1540A>G (p.Arg514Gly)
NM_004960.4(FUS):c.1541+12A>C
NM_004960.4(FUS):c.1541+1G>A rs2079351113
NM_004960.4(FUS):c.1541+9_1541+10del rs761850706
NM_004960.4(FUS):c.1543G>A (p.Gly515Ser)
NM_004960.4(FUS):c.1545_1547dup (p.Gly515_Glu516insAsp) rs2079357583
NM_004960.4(FUS):c.1549C>A (p.His517Asn)
NM_004960.4(FUS):c.1550A>G (p.His517Arg) rs1085308015
NM_004960.4(FUS):c.1552A>G (p.Arg518Gly) rs1409962577
NM_004960.4(FUS):c.1554_1557del (p.Gln519fs) rs2144142389
NM_004960.4(FUS):c.1555C>G (p.Gln519Glu) rs1567479067
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly) rs121909668
NM_004960.4(FUS):c.1562G>A (p.Arg521His) rs121909671
NM_004960.4(FUS):c.1562G>T (p.Arg521Leu) rs121909671
NM_004960.4(FUS):c.1564A>G (p.Arg522Gly) rs1555509693
NM_004960.4(FUS):c.1566G>C (p.Arg522Ser)
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp) rs267606833
NM_004960.4(FUS):c.1573C>A (p.Pro525Thr)
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu) rs886041390
NM_004960.4(FUS):c.167CTT[1] (p.Ser57del) rs777545405
NM_004960.4(FUS):c.190+16C>T
NM_004960.4(FUS):c.191-8C>T
NM_004960.4(FUS):c.211A>G (p.Thr71Ala)
NM_004960.4(FUS):c.215C>T (p.Pro72Leu) rs2144107259
NM_004960.4(FUS):c.231G>A (p.Ser77=) rs746093073
NM_004960.4(FUS):c.234T>C (p.Thr78=)
NM_004960.4(FUS):c.253C>T (p.Gln85Ter)
NM_004960.4(FUS):c.267G>A (p.Ser89=)
NM_004960.4(FUS):c.285C>G (p.Ser95=)
NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr) rs2079220021
NM_004960.4(FUS):c.335+6G>C
NM_004960.4(FUS):c.335+8G>C
NM_004960.4(FUS):c.336-19T>G
NM_004960.4(FUS):c.336-19_336-16del rs755482297
NM_004960.4(FUS):c.336-20T>G
NM_004960.4(FUS):c.336-4C>G
NM_004960.4(FUS):c.340G>A (p.Gly114Ser)
NM_004960.4(FUS):c.38+19C>T
NM_004960.4(FUS):c.39-11C>G rs1449243081
NM_004960.4(FUS):c.39-18G>A
NM_004960.4(FUS):c.392G>A (p.Ser131Asn)
NM_004960.4(FUS):c.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1]) rs747579808
NM_004960.4(FUS):c.414A>G (p.Gly138=)
NM_004960.4(FUS):c.432A>T (p.Gly144=)
NM_004960.4(FUS):c.453C>T (p.Pro151=)
NM_004960.4(FUS):c.474G>C (p.Gln158His)
NM_004960.4(FUS):c.493A>G (p.Ser165Gly) rs1325339011
NM_004960.4(FUS):c.493_495del (p.Ser165del) rs2079227565
NM_004960.4(FUS):c.511G>T (p.Gly171Cys)
NM_004960.4(FUS):c.518_523del
NM_004960.4(FUS):c.523+21_523+24del
NM_004960.4(FUS):c.524-13del
NM_004960.4(FUS):c.524-13dup rs755045476
NM_004960.4(FUS):c.52C>A (p.Pro18Thr) rs144888138
NM_004960.4(FUS):c.52C>T (p.Pro18Ser) rs144888138
NM_004960.4(FUS):c.537A>C (p.Gln179His)
NM_004960.4(FUS):c.550A>G (p.Met184Val)
NM_004960.4(FUS):c.559G>A (p.Gly187Ser)
NM_004960.4(FUS):c.566G>A (p.Gly189Asp)
NM_004960.4(FUS):c.571G>A (p.Gly191Ser) rs148758737
NM_004960.4(FUS):c.576C>T (p.Gly192=)
NM_004960.4(FUS):c.579T>G (p.Gly193=)
NM_004960.4(FUS):c.587A>G (p.Asn196Ser)
NM_004960.4(FUS):c.623A>G (p.Tyr208Cys)
NM_004960.4(FUS):c.646_669del (p.Arg216_Gly223del)
NM_004960.4(FUS):c.647G>A (p.Arg216His)
NM_004960.4(FUS):c.649G>C (p.Gly217Arg) rs565915110
NM_004960.4(FUS):c.652_678del (p.Arg218_Gly226del) rs756437417
NM_004960.4(FUS):c.654_662dup (p.Gly220_Ser221insArgGlyGly)
NM_004960.4(FUS):c.669CGG[10] (p.Gly228_Gly231dup) rs72550890
NM_004960.4(FUS):c.669CGG[2] (p.Gly228_Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[3] (p.Gly229_Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[4] (p.Gly230_Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[5] (p.Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_004960.4(FUS):c.669CGG[8] (p.Gly230_Gly231dup) rs72550890
NM_004960.4(FUS):c.669CGG[9] (p.Gly229_Gly231dup) rs72550890
NM_004960.4(FUS):c.672C>T (p.Gly224=)
NM_004960.4(FUS):c.678C>T (p.Gly226=)
NM_004960.4(FUS):c.681C>T (p.Gly227=)
NM_004960.4(FUS):c.681_689del (p.Gly229_Gly231del) rs767564995
NM_004960.4(FUS):c.684_692del (p.Gly229_Gly231del) rs778398729
NM_004960.4(FUS):c.685GGT[2] (p.Gly231del)
NM_004960.4(FUS):c.685GGT[4] (p.Gly231_Tyr232insGly)
NM_004960.4(FUS):c.685GGT[5] (p.Gly230_Gly231dup) rs757651881
NM_004960.4(FUS):c.685GGT[6] (p.Gly229_Gly231dup) rs757651881
NM_004960.4(FUS):c.689G>T (p.Gly230Val)
NM_004960.4(FUS):c.691G>A (p.Gly231Ser) rs2144114616
NM_004960.4(FUS):c.700C>T (p.Arg234Cys)
NM_004960.4(FUS):c.702C>T (p.Arg234=) rs149785330
NM_004960.4(FUS):c.705C>T (p.Ser235=)
NM_004960.4(FUS):c.726A>G (p.Arg242=) rs2144114862
NM_004960.4(FUS):c.731G>A (p.Arg244His)
NM_004960.4(FUS):c.735_737dup (p.Gly247_Arg248insGly)
NM_004960.4(FUS):c.739_750dup (p.Gly250_Arg251insGlyArgGlyGly)
NM_004960.4(FUS):c.743G>A (p.Arg248His) rs760351730
NM_004960.4(FUS):c.744T>A (p.Arg248=) rs1596898427
NM_004960.4(FUS):c.759C>T (p.Gly253=)
NM_004960.4(FUS):c.761T>C (p.Met254Thr)
NM_004960.4(FUS):c.764+9C>G
NM_004960.4(FUS):c.799+13_799+14del
NM_004960.4(FUS):c.810C>T (p.Asp270=) rs1238867683
NM_004960.4(FUS):c.823C>T (p.His275Tyr)
NM_004960.4(FUS):c.831C>T (p.Ser277=)
NM_004960.4(FUS):c.832+13G>A
NM_004960.4(FUS):c.833-10C>G
NM_004960.4(FUS):c.833-6A>G
NM_004960.4(FUS):c.849C>T (p.Asp283=)
NM_004960.4(FUS):c.884A>G (p.Asn295Ser)
NM_004960.4(FUS):c.906T>C (p.Ala302=)
NM_004960.4(FUS):c.936+12G>A
NM_004960.4(FUS):c.936+21dup rs764726122
NM_004960.4(FUS):c.936+7G>A
NM_004960.4(FUS):c.937-10C>T rs199705472
NM_004960.4(FUS):c.96C>T (p.Pro32=) rs932534102

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