ClinVar Miner

List of variants in gene KIF7 studied for Intellectual disability

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) rs145726393 0.00150
NM_198525.3(KIF7):c.1515C>G (p.Asp505Glu) rs377280724 0.00003
NM_198525.3(KIF7):c.1537G>C (p.Ala513Pro) rs1964038681
NM_198525.3(KIF7):c.2438T>C (p.Leu813Pro) rs1963741468
NM_198525.3(KIF7):c.2734AAG[1] (p.Lys913del) rs769890385
NM_198525.3(KIF7):c.3037_3039del (p.Glu1013del) rs1567058573
NM_198525.3(KIF7):c.52G>A (p.Val18Ile) rs1420854824

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