ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 18 by OMIM

Included ClinVar conditions (1):

Amyotrophic lateral sclerosis type 18

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly)	rs140547520	0.00048
NM_005022.4(PFN1):c.211T>G (p.Cys71Gly)	rs387907264
NM_005022.4(PFN1):c.341T>C (p.Met114Thr)	rs387907265
NM_005022.4(PFN1):c.353G>T (p.Gly118Val)	rs387907266

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