List of variants in gene POMGNT2 reported as likely pathogenic by Invitae

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs)	rs747569790	0.00003
NM_032806.6(POMGNT2):c.1170T>G (p.Tyr390Ter)
NM_032806.6(POMGNT2):c.1555G>T (p.Glu519Ter)	rs747691921

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