ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 6 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_004960.3(FUS):c.*1476T>C rs11860134 0.98998
NM_004960.4(FUS):c.-54A>G rs929867 0.95117
NM_004960.4(FUS):c.291C>T (p.Tyr97=) rs1052352 0.45484
NM_004960.3(FUS):c.*770G>C rs4889537 0.24493
NM_004960.4(FUS):c.147C>A (p.Gly49=) rs741810 0.24179
NM_004960.4(FUS):c.190+9T>C rs73530283 0.06048
NM_004960.3(FUS):c.*1803C>T rs16956408 0.06040
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_004960.3(FUS):c.*491T>G rs73530293 0.03268
NM_004960.3(FUS):c.*2486G>A rs73530298 0.03248
NM_004960.3(FUS):c.*2794G>C rs17839571 0.03244
NM_004960.3(FUS):c.*910C>T rs118018900 0.02606
NM_004960.3(FUS):c.*2393T>A rs541197027 0.01834
NM_004960.3(FUS):c.*989C>T rs114772555 0.01702
NM_004960.3(FUS):c.*1420C>T rs73530295 0.01500
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.-39A>G rs67676356 0.01242
NM_004960.3(FUS):c.*626G>A rs115626460 0.00863
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_004960.3(FUS):c.*1148A>T rs140326191 0.00506
NM_004960.3(FUS):c.*2443A>G rs189787862 0.00503
NM_004960.3(FUS):c.*214C>T rs140875749 0.00361
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.*2988C>T rs73530301 0.00254
NM_004960.3(FUS):c.*687G>A rs549602004 0.00193
NM_004960.4(FUS):c.675C>T (p.Gly225=) rs140003720 0.00179
NM_004960.3(FUS):c.*2005G>T rs140979886 0.00123
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_004960.4(FUS):c.-47G>A rs72550864 0.00081
NM_004960.3(FUS):c.*335G>T rs192206514 0.00076
NM_004960.4(FUS):c.1464C>T (p.Gly488=) rs150529460 0.00075
NM_004960.3(FUS):c.*721A>G rs558776704 0.00071
NM_004960.3(FUS):c.*561C>T rs192705444 0.00058
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_004960.3(FUS):c.*3231T>C rs193018950 0.00041
NM_004960.3(FUS):c.*1034C>T rs181164144 0.00026
NM_004960.3(FUS):c.*1089G>A rs184277413 0.00025
NM_004960.3(FUS):c.*1451A>G rs960906406 0.00024
NM_004960.4(FUS):c.764+12A>C rs143916861 0.00024
NM_004960.4(FUS):c.1080C>T (p.Ser360=) rs190724342 0.00022
NM_004960.3(FUS):c.*1286C>G rs547623704 0.00016
NM_004960.3(FUS):c.*2299A>C rs774311328 0.00016
NM_004960.3(FUS):c.*1834A>G rs758999415 0.00015
NM_004960.3(FUS):c.*1750C>T rs191806441 0.00014
NM_004960.4(FUS):c.687T>C (p.Gly229=) rs781445592 0.00014
NM_004960.3(FUS):c.*1581T>C rs751331525 0.00012
NM_004960.3(FUS):c.*2851T>C rs745882198 0.00011
NM_004960.3(FUS):c.*1843G>A rs886051951 0.00010
NM_004960.4(FUS):c.1169-11A>G rs181859716 0.00010
NM_004960.4(FUS):c.222A>G (p.Gly74=) rs757454595 0.00009
NM_004960.3(FUS):c.*1375C>T rs542241137 0.00007
NM_004960.3(FUS):c.*1610C>T rs538629605 0.00007
NM_004960.3(FUS):c.*2314C>G rs768611402 0.00007
NM_004960.3(FUS):c.*1014G>A rs933525513 0.00006
NM_004960.3(FUS):c.*2259G>C rs886051954 0.00006
NM_004960.3(FUS):c.-118G>A rs763010069 0.00005
NM_004960.3(FUS):c.*1081T>G rs769920119 0.00004
NM_004960.3(FUS):c.*1883T>C rs549012470 0.00004
NM_004960.3(FUS):c.*2884A>T rs554281103 0.00004
NM_004960.3(FUS):c.*1580A>G rs886051946 0.00003
NM_004960.3(FUS):c.*1601C>T rs886051947 0.00003
NM_004960.3(FUS):c.*1614T>G rs750030096 0.00003
NM_004960.3(FUS):c.*1650C>T rs886051948 0.00003
NM_004960.3(FUS):c.*1942G>A rs886051953 0.00003
NM_004960.3(FUS):c.*196C>T rs886051938 0.00003
NM_004960.3(FUS):c.*852A>G rs766638312 0.00003
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser) rs201533156 0.00003
NM_004960.4(FUS):c.452C>T (p.Pro151Leu) rs144342946 0.00003
NM_004960.3(FUS):c.*1067G>C rs1170967009 0.00002
NM_004960.3(FUS):c.*1225C>T rs1183381896 0.00002
NM_004960.3(FUS):c.*1587G>A rs1446005747 0.00002
NM_004960.3(FUS):c.*1593C>T rs577955571 0.00002
NM_004960.3(FUS):c.*2288C>T rs1418881668 0.00002
NM_004960.3(FUS):c.*3174T>G rs3764324 0.00002
NM_004960.3(FUS):c.*3226G>A rs1004430396 0.00002
NM_004960.3(FUS):c.*356G>A rs886051940 0.00002
NM_004960.4(FUS):c.*10C>T rs529269129 0.00002
NM_004960.4(FUS):c.443G>C (p.Ser148Thr) rs773655049 0.00002
NM_004960.3(FUS):c.*1183C>T rs1287894101 0.00001
NM_004960.3(FUS):c.*1273C>T rs371771617 0.00001
NM_004960.3(FUS):c.*1409C>T rs537114134 0.00001
NM_004960.3(FUS):c.*1810C>A rs886051950 0.00001
NM_004960.3(FUS):c.*1851G>A rs1262725950 0.00001
NM_004960.3(FUS):c.*1908C>T rs886051952 0.00001
NM_004960.3(FUS):c.*1916A>G rs759332004 0.00001
NM_004960.3(FUS):c.*2114T>C rs968946643 0.00001
NM_004960.3(FUS):c.*2145G>T rs889675456 0.00001
NM_004960.3(FUS):c.*2348G>A rs775218493 0.00001
NM_004960.3(FUS):c.*270A>G rs886051939 0.00001
NM_004960.3(FUS):c.*282G>A rs928323867 0.00001
NM_004960.3(FUS):c.*2967C>G rs1295852228 0.00001
NM_004960.3(FUS):c.*3185A>G rs1406314738 0.00001
NM_004960.3(FUS):c.*457A>G rs184638686 0.00001
NM_004960.3(FUS):c.*926T>G rs886051943 0.00001
NM_004960.4(FUS):c.-51C>T rs571696003 0.00001
NM_004960.4(FUS):c.1168+6G>C rs750980752 0.00001
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) rs387906627 0.00001
NM_004960.4(FUS):c.192A>G (p.Thr64=) rs776333956 0.00001
NM_004960.4(FUS):c.39-12C>T rs1162920137 0.00001
NM_004960.4(FUS):c.403A>G (p.Ser135Gly) rs886051934 0.00001
NM_004960.4(FUS):c.802C>G (p.Pro268Ala) rs1159514550 0.00001
NM_004960.4(FUS):c.951G>A (p.Thr317=) rs771216742 0.00001
NM_004960.3(FUS):c.*1230C>G rs886051945
NM_004960.3(FUS):c.*1302T>G rs1323278196
NM_004960.3(FUS):c.*1734C>T rs886051949
NM_004960.3(FUS):c.*175C>T rs375615976
NM_004960.3(FUS):c.*2063C>G rs954792797
NM_004960.3(FUS):c.*2329G>C rs2079389885
NM_004960.3(FUS):c.*272T>C rs1175838580
NM_004960.3(FUS):c.*2815T>C rs2079395649
NM_004960.3(FUS):c.*2955A>G rs149361851
NM_004960.3(FUS):c.*3092C>T rs886051958
NM_004960.3(FUS):c.*3230A>G rs550798081
NM_004960.3(FUS):c.*3263T>G rs886051959
NM_004960.3(FUS):c.*408A>C rs553760130
NM_004960.3(FUS):c.*415A>T rs771689682
NM_004960.3(FUS):c.*805C>G rs886051942
NM_004960.3(FUS):c.*814T>C rs772679520
NM_004960.3(FUS):c.*953G>T rs2079374011
NM_004960.4(FUS):c.*132C>A rs565540429
NM_004960.4(FUS):c.-15C>G rs768477428
NM_004960.4(FUS):c.-48C>G rs199671743
NM_004960.4(FUS):c.-49G>A rs200997075
NM_004960.4(FUS):c.-49G>T rs200997075
NM_004960.4(FUS):c.-53C>T rs759668256
NM_004960.4(FUS):c.1181G>T (p.Arg394Leu) rs886051936
NM_004960.4(FUS):c.1376C>T (p.Pro459Leu) rs1131691846
NM_004960.4(FUS):c.1414C>T (p.Arg472Cys) rs914056789
NM_004960.4(FUS):c.40T>A (p.Tyr14Asn) rs2079194587
NM_004960.4(FUS):c.524-7C>T rs747200795
NM_004960.4(FUS):c.52C>T (p.Pro18Ser) rs144888138
NM_004960.4(FUS):c.824A>G (p.His275Arg) rs1405011209
NM_004960.4(FUS):c.833-9A>T rs1055720509
NM_004960.4(FUS):c.937-10C>T rs199705472

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