ClinVar Miner

List of variants studied for autosomal recessive distal spinal muscular atrophy 2 by Suma Genomics, Suma Genomics

Included ClinVar conditions (2):

Autosomal recessive distal spinal muscular atrophy 2
Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16

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

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_005866.4(SIGMAR1):c.338C>G (p.Ser113Cys)	rs1234992727

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