ClinVar Miner

List of variants reported as pathogenic for amyotrophic lateral sclerosis type 6

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) rs267606832 0.00022
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) rs387906627 0.00001
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) rs121909668 0.00001
NM_004960.4(FUS):c.616G>A (p.Gly206Ser) rs387906628 0.00001
NM_004960.4(FUS):c.1391_1392dup (p.Gly465fs) rs2144138894
NM_004960.4(FUS):c.1394-1G>T rs2079347087
NM_004960.4(FUS):c.1394-2del rs1555509569
NM_004960.4(FUS):c.1449_1488del (p.Tyr484fs)
NM_004960.4(FUS):c.1500dup (p.Gly501fs) rs2144140268
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.1509dup (p.Gly504fs) rs2079350332
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp) rs267606831
NM_004960.4(FUS):c.1531dup (p.Met511fs)
NM_004960.4(FUS):c.1540A>G (p.Arg514Gly)
NM_004960.4(FUS):c.1541+1G>A rs2079351113
NM_004960.4(FUS):c.1553G>A (p.Arg518Lys) rs121909669
NM_004960.4(FUS):c.1554_1557del (p.Gln519fs) rs2144142389
NM_004960.4(FUS):c.1555C>T (p.Gln519Ter) 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.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.253C>T (p.Gln85Ter)
NM_007126.5(VCP):c.475C>A (p.Arg159Ser) rs387906789

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