ClinVar Miner

List of variants reported as likely pathogenic for amyotrophic lateral sclerosis by Mendelics

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.449T>A (p.Ile150Asn) rs1424014997
NM_004960.4(FUS):c.1540A>T (p.Arg514Trp) rs1555509609
NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn) rs1574867228
NM_015046.7(SETX):c.1167A>C (p.Leu389Phe) rs2131463306
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp) rs1555451521
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr) rs368751524

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