ClinVar Miner

List of variants reported as pathogenic for Pelizaeus-Merzbacher-like disease by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)	rs752127949	0.00001
NM_020435.4(GJC2):c.404G>A (p.Trp135Ter)
NM_020435.4(GJC2):c.472_481dup (p.Ala161fs)	rs2124966375

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