ClinVar Miner

List of variants reported as uncertain significance for amyotrophic lateral sclerosis by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val) rs202044898 0.00003
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415 0.00002
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837

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