ClinVar Miner

List of variants reported as pathogenic for amyotrophic lateral sclerosis by Baylor Genetics

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter) rs886040888 0.00001
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter) rs368276916 0.00001
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter) rs886040872
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs) rs780136067
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs) rs746971952
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329

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