List of variants in gene NUP88 reported as pathogenic for fetal akinesia deformation sequence

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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.1525C>T (p.Arg509Ter)	rs774070092	0.00001
NM_002532.6(NUP88):c.1300G>T (p.Asp434Tyr)	rs1567568217
NM_002532.6(NUP88):c.1899_1901del (p.Glu634del)	rs776532930

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