ClinVar Miner

List of variants in gene NEK8 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_178170.3(NEK8):c.*388C>T rs1142899 0.40723
NM_178170.3(NEK8):c.1170T>C (p.Gly390=) rs3809797 0.16512
NM_178170.3(NEK8):c.*637C>G rs114191927 0.01020
NM_178170.3(NEK8):c.*19T>C rs75850216 0.00876
NM_178170.3(NEK8):c.*430C>A rs4795455 0.00686
NM_178170.3(NEK8):c.2052G>A (p.Ser684=) rs145898152 0.00291
NM_178170.3(NEK8):c.618+12C>T rs11649957 0.00152
NM_178170.3(NEK8):c.1489G>C (p.Ala497Pro) rs146326420 0.00106
NM_178170.3(NEK8):c.1770C>T (p.His590=) rs183536507 0.00027
NM_178170.3(NEK8):c.2001G>A (p.Thr667=) rs192081177 0.00025
NM_178170.3(NEK8):c.1938A>C (p.Gly646=) rs138629865 0.00024
NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys) rs201548032 0.00022
NM_178170.3(NEK8):c.582C>T (p.Tyr194=) rs201773965 0.00016
NM_178170.3(NEK8):c.1732+19C>A rs534019850 0.00001
NM_178170.3(NEK8):c.1732+8_1732+10del rs3833163

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