ClinVar Miner

List of variants in gene NKAP reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024528.4(NKAP):c.673+7A>G rs369058062 0.00014
NM_024528.4(NKAP):c.121C>T (p.Arg41Cys) rs753554646 0.00002
NM_024528.4(NKAP):c.319C>T (p.Pro107Ser) rs1304810833 0.00001
NM_024528.4(NKAP):c.211T>A (p.Ser71Thr) rs1368677427
NM_024528.4(NKAP):c.415G>A (p.Glu139Lys) rs2147849535
NM_024528.4(NKAP):c.547AAG[2] (p.Lys185del) rs750968620
NM_024528.4(NKAP):c.741G>A (p.Lys247=) rs2521695680

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