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

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs)	rs755487513	0.00002
NM_032806.6(POMGNT2):c.1216G>T (p.Glu406Ter)	rs780525490
NM_032806.6(POMGNT2):c.1234G>A (p.Gly412Arg)	rs879819421
NM_032806.6(POMGNT2):c.1258del (p.Ala420fs)	rs1575461722
NM_032806.6(POMGNT2):c.799T>A (p.Phe267Ile)	rs778188247

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