List of variants in gene NUP88 studied for fetal akinesia deformation sequence

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002532.6(NUP88):c.2157A>G (p.Lys719=)	rs1071705	0.42492
NM_002532.6(NUP88):c.1292-19G>A	rs1806240	0.42485
NM_002532.6(NUP88):c.1836-38G>T	rs748486	0.42467
NM_002532.6(NUP88):c.1389A>T (p.Pro463=)	rs14231	0.42466
NM_002532.6(NUP88):c.1916+3C>T	rs739768	0.42452
NM_002532.6(NUP88):c.1916+25T>G	rs739767	0.42442
NM_002532.6(NUP88):c.1510C>T (p.Pro504Ser)	rs767864487	0.00009
NM_002532.6(NUP88):c.1525C>T (p.Arg509Ter)	rs774070092	0.00001
NM_002532.6(NUP88):c.1117C>T (p.Leu373Phe)
NM_002532.6(NUP88):c.1300G>T (p.Asp434Tyr)	rs1567568217
NM_002532.6(NUP88):c.16G>A (p.Gly6Arg)
NM_002532.6(NUP88):c.1899_1901del (p.Glu634del)	rs776532930

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