ClinVar Miner

List of variants in gene CILK1 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014920.5(CILK1):c.666T>C (p.Thr222=) rs139739780 0.00133
NM_014920.5(CILK1):c.453A>G (p.Arg151=) rs149467924 0.00046
NM_014920.5(CILK1):c.555G>A (p.Ala185=) rs138668959 0.00019
NM_014920.5(CILK1):c.645G>T (p.Val215=) rs145373700 0.00011
NM_014920.5(CILK1):c.84G>A (p.Glu28=) rs56194620 0.00010
NM_014920.5(CILK1):c.358+12G>A rs771886690 0.00006
NM_014920.5(CILK1):c.534C>T (p.Ser178=) rs543243399

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