List of variants reported as pathogenic for Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability by 3billion

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004523.4(KIF11):c.157C>T (p.Arg53Ter)	rs2135900558
NM_004523.4(KIF11):c.2304_2305del (p.His768fs)	rs2135923352
NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs)	rs1844907904
NM_004523.4(KIF11):c.2507_2510del (p.Ser835_Ser836insTer)	rs2135923477
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)	rs2492536872
NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter)	rs1589608594

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