ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive distal spinal muscular atrophy 2 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln)	rs140376902	0.00004
NM_005866.4(SIGMAR1):c.152-2A>T	rs2132329744
NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys)	rs757260058

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