ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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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.1520G>A (p.Gly507Asp) rs267606831
NM_004960.4(FUS):c.1553G>A (p.Arg518Lys) rs121909669
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.1570A>T (p.Arg524Trp) rs267606833
NM_007126.5(VCP):c.475C>A (p.Arg159Ser) rs387906789

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