ClinVar Miner

List of variants reported as benign 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: 29
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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.336-19_336-18insG rs146048051 0.00036
NM_004960.4(FUS):c.684C>T (p.Gly228=) rs151073460 0.00034
NM_004960.4(FUS):c.764+12A>C rs143916861 0.00024
NM_004960.4(FUS):c.132C>T (p.Ser44=) rs72550883 0.00015
NM_004960.4(FUS):c.1169-11A>G rs181859716 0.00010
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.237C>T (p.Gly79=) rs535930927 0.00003
NM_004960.4(FUS):c.1292+22dup rs572228309
NM_004960.4(FUS):c.144A>G (p.Ser48=)
NM_004960.4(FUS):c.1453C>T (p.Arg485Trp)
NM_004960.4(FUS):c.336-19_336-16del rs755482297
NM_004960.4(FUS):c.518_523del
NM_004960.4(FUS):c.524-13dup rs755045476
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_004960.4(FUS):c.702C>T (p.Arg234=) rs149785330

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