List of variants in gene POMGNT1 reported as uncertain significance 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)	rs139701867	0.00021
NM_017739.4(POMGNT1):c.120+3A>G	rs543271070	0.00017
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser)	rs377724143	0.00006
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys)	rs201361648	0.00004
NM_017739.4(POMGNT1):c.287G>C (p.Arg96Pro)	rs200227264	0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp)	rs34058684	0.00003
NM_017739.4(POMGNT1):c.106C>T (p.Arg36Trp)	rs774633618	0.00002
NM_017739.4(POMGNT1):c.286C>T (p.Arg96Trp)	rs770834730	0.00002
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln)	rs768700187	0.00001
NM_017739.4(POMGNT1):c.172A>G (p.Ile58Val)	rs886044042	0.00001
NM_017739.4(POMGNT1):c.185G>A (p.Arg62Gln)	rs779506923
NM_017739.4(POMGNT1):c.212A>G (p.Asp71Gly)	rs753063524
NM_017739.4(POMGNT1):c.236-7C>G	rs1405373316
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His)	rs373866304
NM_017739.4(POMGNT1):c.290G>A (p.Arg97Gln)	rs772757476
NM_017739.4(POMGNT1):c.299A>T (p.Asp100Val)	rs1380628146
NM_017739.4(POMGNT1):c.354G>A (p.Thr118=)	rs1262087747

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