ClinVar Miner

List of variants reported as likely benign for amyotrophic lateral sclerosis type 8 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00170
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
NM_004738.5(VAPB):c.492C>T (p.Thr164=) rs139884809 0.00021
NM_004738.5(VAPB):c.573+18G>A rs201884956 0.00020
NM_004738.5(VAPB):c.574-4G>A rs201798741 0.00016
NM_004738.5(VAPB):c.174C>T (p.Ser58=) rs139149560 0.00011
NM_004738.5(VAPB):c.486T>A (p.Asp162Glu) rs780851496 0.00009
NM_004738.5(VAPB):c.496G>A (p.Val166Ile) rs538630783 0.00007
NM_004738.5(VAPB):c.651A>G (p.Glu217=) rs767437818 0.00006
NM_004738.5(VAPB):c.163A>C (p.Arg55=) rs150761013 0.00003
NM_004738.5(VAPB):c.574-14G>A rs754865953 0.00003
NM_004738.5(VAPB):c.618C>T (p.Ser206=) rs747208140 0.00003
NM_004738.5(VAPB):c.211+19G>A rs1225492890 0.00002
NM_004738.5(VAPB):c.397-16A>G rs767598860 0.00002
NM_004738.5(VAPB):c.465G>A (p.Lys155=) rs779988555 0.00002
NM_004738.5(VAPB):c.333G>A (p.Pro111=) rs762402998 0.00001
NM_004738.5(VAPB):c.348T>C (p.Asp116=) rs751762415 0.00001
NM_004738.5(VAPB):c.58+13G>A rs1987731552 0.00001
NM_004738.5(VAPB):c.58+9C>T rs1232943562 0.00001
NM_004738.5(VAPB):c.597G>A (p.Arg199=) rs748793394 0.00001
NM_004738.5(VAPB):c.699C>T (p.Ile233=) rs372088559 0.00001
NM_004738.5(VAPB):c.111C>T (p.Asp37=) rs781691837
NM_004738.5(VAPB):c.117T>C (p.Asn39=) rs748583918
NM_004738.5(VAPB):c.189A>C (p.Ala63=) rs2123058915
NM_004738.5(VAPB):c.195C>A (p.Ala65=) rs1555813003
NM_004738.5(VAPB):c.207A>G (p.Val69=)
NM_004738.5(VAPB):c.211+11A>T
NM_004738.5(VAPB):c.21C>G (p.Val7=) rs763066492
NM_004738.5(VAPB):c.246G>A (p.Glu82=)
NM_004738.5(VAPB):c.24G>A (p.Leu8=)
NM_004738.5(VAPB):c.252T>C (p.Ser84=) rs2123088934
NM_004738.5(VAPB):c.309A>G (p.Glu103=)
NM_004738.5(VAPB):c.30C>T (p.Leu10=) rs886056811
NM_004738.5(VAPB):c.315+14G>A
NM_004738.5(VAPB):c.315+14G>T
NM_004738.5(VAPB):c.315+15C>A rs2123089093
NM_004738.5(VAPB):c.316-17A>T rs201335617
NM_004738.5(VAPB):c.375G>A (p.Leu125=) rs2123096724
NM_004738.5(VAPB):c.378A>G (p.Pro126=) rs981564507
NM_004738.5(VAPB):c.384G>A (p.Glu128=)
NM_004738.5(VAPB):c.396+16G>A
NM_004738.5(VAPB):c.396+21_396+23del
NM_004738.5(VAPB):c.396+9A>G
NM_004738.5(VAPB):c.397-12G>T
NM_004738.5(VAPB):c.397-17C>T
NM_004738.5(VAPB):c.402T>C (p.Asp134=)
NM_004738.5(VAPB):c.438A>G (p.Ser146=)
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004738.5(VAPB):c.547C>T (p.Leu183=)
NM_004738.5(VAPB):c.564G>A (p.Lys188=) rs1252962552
NM_004738.5(VAPB):c.573+16C>A
NM_004738.5(VAPB):c.574-15C>T
NM_004738.5(VAPB):c.574-7C>T
NM_004738.5(VAPB):c.58+10A>G
NM_004738.5(VAPB):c.58+18C>T
NM_004738.5(VAPB):c.58+8C>G
NM_004738.5(VAPB):c.59-11T>C
NM_004738.5(VAPB):c.59-11_59-10del
NM_004738.5(VAPB):c.59-16_59-15del
NM_004738.5(VAPB):c.63C>G (p.Pro21=)
NM_004738.5(VAPB):c.69C>T (p.Thr23=)
NM_004738.5(VAPB):c.78C>T (p.Val26=) rs2123058654
NM_004738.5(VAPB):c.99C>T (p.Gly33=)

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