ClinVar Miner

List of variants reported as pathogenic for amyotrophic lateral sclerosis by Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.112G>C (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) rs121912444
NM_000454.5(SOD1):c.13G>T (p.Ala5Ser) rs121912444
NM_000454.5(SOD1):c.140A>G (p.His47Arg) rs121912443
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser) rs11556620
NM_000454.5(SOD1):c.435G>T (p.Leu145Phe) rs1482760341
NM_001008212.2(OPTN):c.1217del (p.Thr406fs) rs1833451208
NM_001008212.2(OPTN):c.76del (p.His26fs) rs753966040
NM_004960.4(FUS):c.1394-1G>T rs2079347087
NM_004960.4(FUS):c.1555C>T (p.Gln519Ter) rs1567479067
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu) rs886041390
NM_004960.4(FUS):c.1577A>G (p.Tyr526Cys) rs1228194239
NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala) rs1844420892
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter) rs1284582102
NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter) rs1435710212
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter) rs374047961
NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter) rs1226110412
NM_025137.4(SPG11):c.2250del (p.Phe750fs) rs2083790483
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) rs778305085
NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter) rs2076486420
NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter) rs775935265

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