ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 18 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005022.4(PFN1):c.318_319dup (p.Asp107fs) rs2151134645
NM_005022.4(PFN1):c.351A>T (p.Glu117Asp)

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