ClinVar Miner

List of variants reported as pathogenic for Pelizaeus-Merzbacher-like disease by 3billion, Medical Genetics

Included ClinVar conditions (6):

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter)	rs724159969	0.00001
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs)	rs1085307499

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