List of variants in gene NEK9 studied for arthrogryposis syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_033116.6(NEK9):c.*13G>A	rs175487	0.98559
NM_033116.6(NEK9):c.300T>A (p.Ile100=)	rs175449	0.50389
NM_033116.6(NEK9):c.324C>T (p.His108=)	rs8017642	0.42590
NM_033116.6(NEK9):c.1126G>A (p.Ala376Thr)	rs370474070	0.00022
NM_033116.6(NEK9):c.2042G>A (p.Arg681His)	rs142859694	0.00002
NM_033116.6(NEK9):c.1489C>T (p.Arg497Ter)	rs757011098	0.00001
NM_033116.6(NEK9):c.1327+2T>C
NM_033116.6(NEK9):c.1367G>A (p.Gly456Asp)
NM_033116.6(NEK9):c.190G>A (p.Gly64Arg)	rs1484479258

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