ClinVar Miner

List of variants in gene NKAP studied for X-linked disease

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_024528.4(NKAP):c.923+6C>T rs194302 0.60390
NM_024528.4(NKAP):c.768G>T (p.Lys256Asn) rs372119031 0.00002
NM_024528.4(NKAP):c.1010T>C (p.Ile337Thr) rs1603379772
NM_024528.4(NKAP):c.1073+1672_1074-1701del
NM_024528.4(NKAP):c.1082G>A (p.Arg361Gln) rs1603379318
NM_024528.4(NKAP):c.128G>A (p.Arg43His)
NM_024528.4(NKAP):c.143C>G (p.Ser48Cys)
NM_024528.4(NKAP):c.538+8T>A rs194308
NM_024528.4(NKAP):c.539-17A>T rs194307
NM_024528.4(NKAP):c.550A>G (p.Lys184Glu)
NM_024528.4(NKAP):c.600ATC[1] (p.Ser202del) rs10577974
NM_024528.4(NKAP):c.812A>T (p.Glu271Val)
NM_024528.4(NKAP):c.961A>G (p.Met321Val) rs2147845271
NM_024528.4(NKAP):c.988C>T (p.Arg330Cys) rs1603379781
NM_024528.4(NKAP):c.989G>A (p.Arg330His) rs1603379780
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779

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