List of variants in gene POFUT1 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_015352.2(POFUT1):c.203C>G (p.Pro68Arg)	rs2516174086
NM_015352.2(POFUT1):c.232C>T (p.Pro78Ser)	rs2516174157
NM_015352.2(POFUT1):c.246+4A>T	rs2516174217
NM_015352.2(POFUT1):c.425T>C (p.Met142Thr)	rs2122571268
NM_015352.2(POFUT1):c.428A>G (p.Lys143Arg)
NM_015352.2(POFUT1):c.560A>G (p.His187Arg)	rs2122596299
NM_015352.2(POFUT1):c.776C>T (p.Ser259Leu)	rs1569161941

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