ClinVar Miner

List of variants reported as uncertain significance for Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability by Baylor Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004523.4(KIF11):c.193A>G (p.Thr65Ala) rs200410468 0.00009
NM_004523.4(KIF11):c.131A>G (p.Asp44Gly) rs1844430488
NM_004523.4(KIF11):c.1480G>A (p.Asp494Asn) rs1844723696
NM_004523.4(KIF11):c.151A>G (p.Ser51Gly) rs1844430675
NM_004523.4(KIF11):c.1875+4A>G rs2492521177
NM_004523.4(KIF11):c.2279A>T (p.Asp760Val) rs778431479
NM_004523.4(KIF11):c.2654C>A (p.Thr885Asn) rs2492540959

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