List of variants in gene PPT1 reported as pathogenic by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)	rs137852695	0.00061
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000310.4(PPT1):c.169dup (p.Met57fs)	rs386833634
NM_000310.4(PPT1):c.536+1G>A	rs386833651

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