ClinVar Miner

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

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_004523.4(KIF11):c.-1_2delinsAA (p.Met1fs) rs797045649
NM_004523.4(KIF11):c.1039_1040del (p.Leu347fs) rs730882061
NM_004523.4(KIF11):c.1116dup (p.Ala373fs) rs1589595589
NM_004523.4(KIF11):c.112del (p.His38fs) rs1554859309
NM_004523.4(KIF11):c.1159C>T (p.Arg387Ter) rs387906641
NM_004523.4(KIF11):c.1288GAG[2] (p.Glu432del) rs1554861545
NM_004523.4(KIF11):c.1408G>T (p.Glu470Ter) rs786205900
NM_004523.4(KIF11):c.157C>T (p.Arg53Ter) rs2135900558
NM_004523.4(KIF11):c.1592del (p.Gln531fs) rs730882062
NM_004523.4(KIF11):c.2049dup (p.Asn684Ter) rs2492525408
NM_004523.4(KIF11):c.2160+1G>T rs1554862218
NM_004523.4(KIF11):c.2161-1G>A rs1844845643
NM_004523.4(KIF11):c.2230C>T (p.Gln744Ter) rs1554862427
NM_004523.4(KIF11):c.2267+1G>A rs2492528918
NM_004523.4(KIF11):c.2300_2301del (p.Phe767fs) rs730882121
NM_004523.4(KIF11):c.2304_2305del (p.His768fs) rs2135923352
NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter) rs1472205853
NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs) rs1844907904
NM_004523.4(KIF11):c.2341C>T (p.Gln781Ter) rs1057516208
NM_004523.4(KIF11):c.2441_2442insTTCTT (p.Glu814fs) rs2135923459
NM_004523.4(KIF11):c.247C>T (p.Arg83Ter) rs1064796738
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.253_260delinsTTGTTCA (p.Val85fs) rs2492476596
NM_004523.4(KIF11):c.2547+2T>C rs730882063
NM_004523.4(KIF11):c.2548-1G>A rs1554863016
NM_004523.4(KIF11):c.2771-1G>C rs2135925601
NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter) rs1589608594
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004523.4(KIF11):c.2922G>A (p.Pro974=) rs1554863201
NM_004523.4(KIF11):c.308+1G>A rs527562872
NM_004523.4(KIF11):c.436A>T (p.Lys146Ter) rs797045650
NM_004523.4(KIF11):c.478_479del (p.Leu160fs) rs1589591659
NM_004523.4(KIF11):c.634C>T (p.Gln212Ter)
NM_004523.4(KIF11):c.699-7_705del rs797045651
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) rs387906643
NM_004523.4(KIF11):c.77+1G>A rs1057524736
NM_004523.4(KIF11):c.790-1G>A rs730882122
NM_004523.4(KIF11):c.790-1G>T rs730882122
NM_004523.4(KIF11):c.868C>T (p.Gln290Ter) rs1554859966
NM_004523.4(KIF11):c.945_946del (p.Lys315fs) rs2492490344
NM_004523.4:c.(1217+1_1218-1)_(1494+1_1495-1)del

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