ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 1 by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000454.4(SOD1):c.14C>T (p.Ala5Val) rs121912442
NM_000454.4(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344
NM_004082.4(DCTN1):c.414+1G>A rs576198476
NM_004082.4(DCTN1):c.460C>T (p.Arg154Cys) rs141670992

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