ClinVar Miner

List of variants in gene KIF11 studied for primary lymphedema

Included ClinVar conditions (85):
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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe) rs34417963 0.01412
NM_004523.4(KIF11):c.1578C>A (p.His526Gln) rs112145870 0.00253
NM_004523.4(KIF11):c.2153A>T (p.His718Leu) rs116942055 0.00082
NM_004523.4(KIF11):c.193A>G (p.Thr65Ala) rs200410468 0.00009
NM_004523.4(KIF11):c.2018A>T (p.Lys673Met) rs1235363221 0.00006
NM_004523.4(KIF11):c.980G>A (p.Arg327His) rs746977730 0.00006
NM_004523.4(KIF11):c.2836C>T (p.His946Tyr) rs201290831 0.00004
NM_004523.4(KIF11):c.1494+10T>G rs779621928 0.00001
NM_004523.4(KIF11):c.1677G>A (p.Met559Ile) rs750869480 0.00001
NM_004523.4(KIF11):c.1823T>C (p.Leu608Pro) rs535517017 0.00001
NM_004523.4(KIF11):c.2089T>G (p.Leu697Val) rs781259791 0.00001
NM_004523.4(KIF11):c.979C>T (p.Arg327Cys) rs191708835 0.00001
NG_032580.1:g.(92613040_92613130)_(92613377_92613619)del
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.1060dup (p.His354fs)
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.1217+14_1217+283del rs1844616530
NM_004523.4(KIF11):c.1235T>G (p.Leu412Ter)
NM_004523.4(KIF11):c.1288GAG[2] (p.Glu432del) rs1554861545
NM_004523.4(KIF11):c.1305+1G>A rs1589600695
NM_004523.4(KIF11):c.131A>G (p.Asp44Gly) rs1844430488
NM_004523.4(KIF11):c.1345C>T (p.Gln449Ter)
NM_004523.4(KIF11):c.139C>T (p.Arg47Ter)
NM_004523.4(KIF11):c.1408G>T (p.Glu470Ter) rs786205900
NM_004523.4(KIF11):c.143_147del (p.Lys48fs)
NM_004523.4(KIF11):c.1480G>A (p.Asp494Asn)
NM_004523.4(KIF11):c.1513_1516del (p.Glu505fs)
NM_004523.4(KIF11):c.151A>G (p.Ser51Gly) rs1844430675
NM_004523.4(KIF11):c.1559A>G (p.Lys520Arg) rs2135916166
NM_004523.4(KIF11):c.157C>T (p.Arg53Ter) rs2135900558
NM_004523.4(KIF11):c.1580A>T (p.Asn527Ile) rs1844750166
NM_004523.4(KIF11):c.1592del (p.Gln531fs) rs730882062
NM_004523.4(KIF11):c.1634T>C (p.Met545Thr) rs1564713037
NM_004523.4(KIF11):c.1703-1G>A
NM_004523.4(KIF11):c.1875+4A>G
NM_004523.4(KIF11):c.1879G>A (p.Val627Ile)
NM_004523.4(KIF11):c.1935_1936del (p.Ser646fs)
NM_004523.4(KIF11):c.1A>G (p.Met1Val)
NM_004523.4(KIF11):c.2049dup (p.Asn684Ter)
NM_004523.4(KIF11):c.2059del (p.His687fs) rs1554862197
NM_004523.4(KIF11):c.209T>C (p.Met70Thr)
NM_004523.4(KIF11):c.2160+1G>T rs1554862218
NM_004523.4(KIF11):c.2160+5G>A
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
NM_004523.4(KIF11):c.2268-1G>A
NM_004523.4(KIF11):c.2279A>T (p.Asp760Val) rs778431479
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)
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.235A>G (p.Ile79Val)
NM_004523.4(KIF11):c.2369G>C (p.Gly790Ala)
NM_004523.4(KIF11):c.2441_2442insTTCTT (p.Glu814fs) rs2135923459
NM_004523.4(KIF11):c.2458G>T (p.Glu820Ter)
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)
NM_004523.4(KIF11):c.253_260delinsTTGTTCA (p.Val85fs)
NM_004523.4(KIF11):c.2545G>T (p.Glu849Ter)
NM_004523.4(KIF11):c.2547+2T>C rs730882063
NM_004523.4(KIF11):c.2548-1G>A rs1554863016
NM_004523.4(KIF11):c.2598_2601del (p.Gly868fs)
NM_004523.4(KIF11):c.2654C>A (p.Thr885Asn)
NM_004523.4(KIF11):c.2704A>G (p.Ile902Val)
NM_004523.4(KIF11):c.2771-1G>C rs2135925601
NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter) rs1589608594
NM_004523.4(KIF11):c.2804C>T (p.Pro935Leu)
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004523.4(KIF11):c.2921dup (p.Asp975fs)
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
NM_004523.4(KIF11):c.2972dup (p.Ser992fs) rs1554863246
NM_004523.4(KIF11):c.301_302del (p.Ile101fs)
NM_004523.4(KIF11):c.308+1G>A
NM_004523.4(KIF11):c.349G>T (p.Gly117Cys) rs1589590723
NM_004523.4(KIF11):c.376dup (p.Thr126fs) rs2135901156
NM_004523.4(KIF11):c.381G>A (p.Trp127Ter) rs1589590737
NM_004523.4(KIF11):c.388-6T>G
NM_004523.4(KIF11):c.422A>T (p.His141Leu) rs1844462612
NM_004523.4(KIF11):c.436A>T (p.Lys146Ter) rs797045650
NM_004523.4(KIF11):c.473del (p.Val158fs) rs2135902435
NM_004523.4(KIF11):c.478_479del (p.Leu160fs) rs1589591659
NM_004523.4(KIF11):c.489del (p.Tyr164fs)
NM_004523.4(KIF11):c.529del (p.Asp177fs)
NM_004523.4(KIF11):c.532G>C (p.Val178Leu)
NM_004523.4(KIF11):c.574-2A>G
NM_004523.4(KIF11):c.587_590del (p.Ile196fs)
NM_004523.4(KIF11):c.634C>T (p.Gln212Ter)
NM_004523.4(KIF11):c.699-1G>C rs2135904871
NM_004523.4(KIF11):c.699-7_705del rs797045651
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) rs387906643
NM_004523.4(KIF11):c.733A>G (p.Met245Val) rs1403095180
NM_004523.4(KIF11):c.77+1G>A rs1057524736
NM_004523.4(KIF11):c.789+1G>T rs2135904919
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.895A>G (p.Ile299Val) rs1844517913
NM_004523.4(KIF11):c.89T>A (p.Leu30Ter)
NM_004523.4(KIF11):c.934C>T (p.Arg312Ter) rs2135905068
NM_004523.4(KIF11):c.945_946del (p.Lys315fs)
NM_004523.4(KIF11):c.961C>T (p.Gln321Ter)
NM_004523.4:c.(1217+1_1218-1)_(1494+1_1495-1)del

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