ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_021076.4(NEFH):c.2232T>C (p.Ala744=) rs165923 0.82375
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_007375.4(TARDBP):c.714+69dup rs143130606

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