ClinVar Miner

List of variants reported as likely benign for amyotrophic lateral sclerosis type 6

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_004960.3(FUS):c.*1992A>C rs146490489 0.00325
NM_004960.3(FUS):c.*1998T>C rs182437252 0.00272
NM_004960.3(FUS):c.*2005G>T rs140979886 0.00123
NM_004960.3(FUS):c.*335G>T rs192206514 0.00076
NM_004960.3(FUS):c.*561C>T rs192705444 0.00058
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.47C>T (p.Ala16Val) rs139980267 0.00032
NM_004960.3(FUS):c.*1089G>A rs184277413 0.00025
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_004960.3(FUS):c.*1286C>G rs547623704 0.00016
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.222A>G (p.Gly74=) rs757454595 0.00009
NM_004960.4(FUS):c.339C>T (p.Tyr113=) rs770345118 0.00008
NM_004960.3(FUS):c.*1375C>T rs542241137 0.00007
NM_004960.4(FUS):c.1461C>T (p.Arg487=) rs755870176 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.1348C>T (p.Pro450Ser) rs201533156 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.1452C>T (p.Tyr484=) rs372721739 0.00002
NM_004960.4(FUS):c.648C>T (p.Arg216=) rs556586630 0.00002
NM_004960.4(FUS):c.90T>C (p.Ser30=) rs1485377976 0.00002
NM_004960.3(FUS):c.*2348G>A rs775218493 0.00001
NM_004960.4(FUS):c.174T>C (p.Tyr58=) rs780887876 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.318C>T (p.Pro106=) rs200264709 0.00001
NM_004960.4(FUS):c.375C>G (p.Pro125=) rs368148475 0.00001
NM_004960.4(FUS):c.99C>T (p.Tyr33=) rs371503663 0.00001
NM_004960.3(FUS):c.*2955A>G rs149361851
NM_004960.3(FUS):c.*814T>C rs772679520
NM_004960.3(FUS):c.521_523+3dupGAGGTG
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.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.1125T>C (p.Phe375=)
NM_004960.4(FUS):c.1168+16C>T
NM_004960.4(FUS):c.1169-7G>A rs763718245
NM_004960.4(FUS):c.119G>C (p.Gly40Ala)
NM_004960.4(FUS):c.1292+20T>A
NM_004960.4(FUS):c.1293-13C>T
NM_004960.4(FUS):c.135G>T (p.Thr45=)
NM_004960.4(FUS):c.1377A>C (p.Pro459=)
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.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.1446C>T (p.Gly482=) rs112061837
NM_004960.4(FUS):c.1506C>T (p.Asp502=)
NM_004960.4(FUS):c.1541+12A>C
NM_004960.4(FUS):c.1541+9_1541+10del rs761850706
NM_004960.4(FUS):c.190+16C>T
NM_004960.4(FUS):c.191-8C>T
NM_004960.4(FUS):c.231G>A (p.Ser77=) rs746093073
NM_004960.4(FUS):c.234T>C (p.Thr78=)
NM_004960.4(FUS):c.267G>A (p.Ser89=)
NM_004960.4(FUS):c.285C>G (p.Ser95=)
NM_004960.4(FUS):c.335+8G>C
NM_004960.4(FUS):c.336-19T>G
NM_004960.4(FUS):c.336-20T>G
NM_004960.4(FUS):c.336-4C>G
NM_004960.4(FUS):c.38+19C>T
NM_004960.4(FUS):c.39-11C>G rs1449243081
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.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.576C>T (p.Gly192=)
NM_004960.4(FUS):c.579T>G (p.Gly193=)
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.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.705C>T (p.Ser235=)
NM_004960.4(FUS):c.726A>G (p.Arg242=) rs2144114862
NM_004960.4(FUS):c.744T>A (p.Arg248=) rs1596898427
NM_004960.4(FUS):c.759C>T (p.Gly253=)
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.832+13G>A
NM_004960.4(FUS):c.833-10C>G
NM_004960.4(FUS):c.849C>T (p.Asp283=)
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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