List of variants in gene NUP88 reported as uncertain significance for Fetal akinesia deformation sequence 4

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_002532.6(NUP88):c.1510C>T (p.Pro504Ser)	rs767864487	0.00009
NM_002532.6(NUP88):c.1117C>T (p.Leu373Phe)
NM_002532.6(NUP88):c.16G>A (p.Gly6Arg)

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