ClinVar Miner

List of variants in gene KANK1 studied for cerebral palsy, spastic quadriplegic, 2

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_015158.5(KANK1):c.624C>G (p.Ala208=) rs116178720 0.01172
NM_015158.5(KANK1):c.3245+12T>C rs187592077 0.00871
NM_015158.5(KANK1):c.3912G>A (p.Ala1304=) rs114114032 0.00369
NM_015158.5(KANK1):c.1377G>A (p.Gln459=) rs114868002 0.00277
NM_015158.5(KANK1):c.804C>T (p.Ala268=) rs116693683 0.00275
NM_015158.5(KANK1):c.1103G>A (p.Arg368Gln) rs149775124 0.00111
NM_015158.5(KANK1):c.1491G>A (p.Ser497=) rs114649126 0.00081
NM_015158.5(KANK1):c.3618C>T (p.Ala1206=) rs367704087 0.00079
NM_015158.5(KANK1):c.2544G>C (p.Leu848=) rs138739899 0.00073
NM_015158.5(KANK1):c.3880G>A (p.Gly1294Ser) rs140893133 0.00071
NM_015158.5(KANK1):c.453C>T (p.Asn151=) rs139301285 0.00063
NM_015158.5(KANK1):c.3245+9C>T rs144003040 0.00061
NM_015158.5(KANK1):c.3842A>G (p.Glu1281Gly) rs139624364 0.00056
NM_015158.5(KANK1):c.3870C>T (p.Pro1290=) rs115758363 0.00053
NM_015158.5(KANK1):c.2847G>A (p.Thr949=) rs114869733 0.00051
NM_015158.5(KANK1):c.3130C>T (p.Arg1044Trp) rs150840874 0.00049
NM_015158.5(KANK1):c.683C>G (p.Ala228Gly) rs138522309 0.00041
NM_015158.5(KANK1):c.93C>T (p.Tyr31=) rs151056048 0.00041
NM_015158.5(KANK1):c.561T>C (p.Phe187=) rs139983081 0.00036
NM_015158.5(KANK1):c.3057C>T (p.Ser1019=) rs143617877 0.00035
NM_015158.5(KANK1):c.2366G>T (p.Gly789Val) rs146130179 0.00034
NM_015158.5(KANK1):c.3005+9A>T rs184585076 0.00034
NM_015158.5(KANK1):c.1269G>C (p.Lys423Asn) rs137918238 0.00031
NM_015158.5(KANK1):c.2261T>G (p.Val754Gly) rs148027754 0.00031
NM_015158.5(KANK1):c.3807G>A (p.Thr1269=) rs143880438 0.00031
NM_015158.5(KANK1):c.3554-5_3554-4insTA rs1554721659 0.00030
NM_015158.5(KANK1):c.9C>T (p.His3=) rs144137079 0.00030
NM_015158.5(KANK1):c.1216G>A (p.Glu406Lys) rs147714853 0.00028
NM_015158.5(KANK1):c.2091C>T (p.Asn697=) rs34038073 0.00026
NM_015158.5(KANK1):c.2556C>T (p.Phe852=) rs149371668 0.00026
NM_015158.5(KANK1):c.1196G>A (p.Arg399Gln) rs114784029 0.00025
NM_015158.5(KANK1):c.1600G>A (p.Val534Met) rs112166059 0.00025
NM_015158.5(KANK1):c.2342G>C (p.Cys781Ser) rs143675911 0.00024
NM_015158.5(KANK1):c.3696+8C>T rs373324342 0.00024
NM_015158.5(KANK1):c.857T>A (p.Val286Glu) rs114947217 0.00024
NM_015158.5(KANK1):c.564A>G (p.Gly188=) rs201155271 0.00019
NM_015158.5(KANK1):c.2063C>T (p.Thr688Met) rs146648084 0.00015
NM_015158.5(KANK1):c.1533T>C (p.Val511=) rs199881654 0.00013
NM_015158.5(KANK1):c.1652G>A (p.Cys551Tyr) rs370250575 0.00013
NM_015158.5(KANK1):c.3996G>A (p.Pro1332=) rs115382946 0.00013
NM_015158.5(KANK1):c.1260G>C (p.Arg420Ser) rs150303132 0.00012
NM_015158.5(KANK1):c.1818_1820del (p.Glu608del) rs776592186 0.00011
NM_015158.5(KANK1):c.1882A>G (p.Ile628Val) rs114109003 0.00011
NM_015158.5(KANK1):c.2064G>A (p.Thr688=) rs143946731 0.00010
NM_015158.5(KANK1):c.255A>G (p.Ile85Met) rs143368107 0.00010
NM_015158.5(KANK1):c.2077G>A (p.Glu693Lys) rs370791961 0.00009
NM_015158.5(KANK1):c.2646T>G (p.Thr882=) rs116342444 0.00009
NM_015158.5(KANK1):c.1412G>A (p.Arg471His) rs144629161 0.00007
NM_015158.5(KANK1):c.1909G>A (p.Val637Met) rs147261175 0.00007
NM_015158.5(KANK1):c.2202G>T (p.Arg734=) rs201557720 0.00007
NM_015158.5(KANK1):c.1624G>A (p.Val542Met) rs146416309 0.00006
NM_015158.5(KANK1):c.1943G>A (p.Arg648Gln) rs575779520 0.00006
NM_015158.5(KANK1):c.2968G>A (p.Ala990Thr) rs138899296 0.00006
NM_015158.5(KANK1):c.1011G>A (p.Arg337=) rs142210244 0.00005
NM_015158.5(KANK1):c.3733G>A (p.Gly1245Arg) rs776210843 0.00005
NM_015158.5(KANK1):c.226C>T (p.Pro76Ser) rs767269190 0.00004
NM_015158.5(KANK1):c.2389G>A (p.Val797Met) rs540922500 0.00004
NM_015158.5(KANK1):c.3608C>T (p.Ala1203Val) rs375800988 0.00004
NM_015158.5(KANK1):c.972T>A (p.Tyr324Ter) rs750400215 0.00004
NM_015158.5(KANK1):c.2933T>C (p.Met978Thr) rs753441206 0.00003
NM_015158.5(KANK1):c.466A>G (p.Lys156Glu) rs762757246 0.00003
NM_015158.5(KANK1):c.783G>A (p.Gln261=) rs759180739 0.00003
NM_015158.5(KANK1):c.1997C>T (p.Pro666Leu) rs746088661 0.00002
NM_015158.5(KANK1):c.2153C>G (p.Ala718Gly) rs748758469 0.00002
NM_015158.5(KANK1):c.3137T>C (p.Met1046Thr) rs746428922 0.00002
NM_015158.5(KANK1):c.3281A>G (p.Asn1094Ser) rs745697707 0.00002
NM_015158.5(KANK1):c.3744C>T (p.Asp1248=) rs762794892 0.00002
NM_015158.5(KANK1):c.3869C>A (p.Pro1290His) rs200278059 0.00002
NM_015158.5(KANK1):c.1086G>C (p.Gln362His) rs747879222 0.00001
NM_015158.5(KANK1):c.148G>T (p.Asp50Tyr) rs745774146 0.00001
NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn) rs754470891 0.00001
NM_015158.5(KANK1):c.1901C>G (p.Ser634Cys) rs1305877076 0.00001
NM_015158.5(KANK1):c.2143C>T (p.Arg715Trp) rs780258278 0.00001
NM_015158.5(KANK1):c.2474A>G (p.His825Arg) rs1324583042 0.00001
NM_015158.5(KANK1):c.2683C>A (p.Leu895Met) rs770304192 0.00001
NM_015158.5(KANK1):c.3764C>A (p.Ala1255Asp) rs187246624 0.00001
NM_015158.5(KANK1):c.433C>T (p.Pro145Ser) rs771646121 0.00001
NM_015158.5(KANK1):c.46G>C (p.Gly16Arg) rs770900793 0.00001
NM_015158.5(KANK1):c.1069G>C (p.Val357Leu) rs756738968
NM_015158.5(KANK1):c.1225A>G (p.Met409Val)
NM_015158.5(KANK1):c.1287A>C (p.Thr429=) rs142442062
NM_015158.5(KANK1):c.130G>T (p.Asp44Tyr) rs1564032190
NM_015158.5(KANK1):c.1507A>G (p.Lys503Glu)
NM_015158.5(KANK1):c.1607C>A (p.Thr536Lys) rs149011172
NM_015158.5(KANK1):c.2020A>G (p.Ser674Gly) rs1826539628
NM_015158.5(KANK1):c.2074A>G (p.Ile692Val)
NM_015158.5(KANK1):c.2174A>C (p.Lys725Thr)
NM_015158.5(KANK1):c.271T>A (p.Ser91Thr)
NM_015158.5(KANK1):c.2885C>T (p.Ala962Val) rs1554713996
NM_015158.5(KANK1):c.2896+2T>G rs149121553
NM_015158.5(KANK1):c.2918C>T (p.Thr973Ile)
NM_015158.5(KANK1):c.2929A>G (p.Ile977Val) rs1564102615
NM_015158.5(KANK1):c.3213dup (p.Cys1072fs) rs1002937620
NM_015158.5(KANK1):c.3333+1G>A
NM_015158.5(KANK1):c.335A>C (p.Gln112Pro) rs751635469
NM_015158.5(KANK1):c.3554-9_3554-5del rs58169581
NM_015158.5(KANK1):c.3634_3636del (p.Lys1212del) rs1481812195
NM_015158.5(KANK1):c.3709del (p.Ala1237fs) rs758879616
NM_015158.5(KANK1):c.3832G>A (p.Gly1278Arg)
NM_015158.5(KANK1):c.3995C>T (p.Pro1332Leu) rs143775530
NM_015158.5(KANK1):c.590CTT[1] (p.Ser198del) rs781727306

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