ClinVar Miner

List of variants in gene ALPK3 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Gene type:
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_020778.5(ALPK3):c.3450T>C (p.Gly1150=) rs167379 0.83408
NM_020778.5(ALPK3):c.3290C>T (p.Pro1097Leu) rs306197 0.78256
NM_020778.5(ALPK3):c.*5C>T rs3748380 0.28180
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro) rs187316 0.20039
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu) rs3803405 0.18268
NM_020778.5(ALPK3):c.3711C>T (p.Asp1237=) rs35931910 0.06671
NM_020778.5(ALPK3):c.3954G>A (p.Glu1318=) rs34122391 0.05659
NC_000015.10:g.84817040A>G rs28431354 0.03031
NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg) rs55702300 0.02213
NM_020778.5(ALPK3):c.2811C>G (p.Ala937=) rs35621845 0.01276
NM_020778.5(ALPK3):c.401G>A (p.Arg134His) rs34407151 0.01062
NM_020778.5(ALPK3):c.104C>T (p.Ala35Val) rs75088852 0.01026
NC_000015.10:g.84817021C>G rs115389253 0.00431
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser) rs115292211 0.00387
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=) rs114957070 0.00358
NM_020778.5(ALPK3):c.2597C>T (p.Thr866Met) rs35292668 0.00358
NM_020778.5(ALPK3):c.4474G>A (p.Ala1492Thr) rs114449938 0.00349
NM_020778.5(ALPK3):c.123C>T (p.Leu41=) rs78638069 0.00345
NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln) rs145993158 0.00335
NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp) rs34409363 0.00292
NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val) rs36002219 0.00277
NM_020778.5(ALPK3):c.3401C>T (p.Ala1134Val) rs139666355 0.00066
NM_020778.5(ALPK3):c.1900C>T (p.Arg634Cys) rs201086326 0.00054
NM_020778.5(ALPK3):c.3353C>T (p.Ala1118Val) rs200275512 0.00042
NM_020778.5(ALPK3):c.1982T>A (p.Met661Lys) rs150227073 0.00041
NM_020778.5(ALPK3):c.2262A>G (p.Glu754=) rs143456491 0.00038
NM_020778.5(ALPK3):c.4056C>T (p.His1352=) rs144613098 0.00035
NM_020778.5(ALPK3):c.150A>G (p.Ser50=) rs79285448 0.00032
NM_020778.5(ALPK3):c.4387A>G (p.Arg1463Gly) rs147450988 0.00026
NM_020778.5(ALPK3):c.4899C>G (p.Pro1633=) rs143514559 0.00026
NM_020778.5(ALPK3):c.4808T>C (p.Leu1603Pro) rs145058237 0.00025
NM_020778.5(ALPK3):c.2528G>A (p.Arg843Gln) rs114988007 0.00024
NM_020778.5(ALPK3):c.4156A>G (p.Met1386Val) rs149627415 0.00024
NM_020778.5(ALPK3):c.653C>T (p.Pro218Leu) rs373555781 0.00017
NM_020778.5(ALPK3):c.3642C>A (p.Ser1214=) rs774275671 0.00015
NM_020778.5(ALPK3):c.175T>C (p.Ser59Pro) rs750401200 0.00014
NM_020778.5(ALPK3):c.301A>G (p.Thr101Ala) rs199645892 0.00014
NM_020778.5(ALPK3):c.93C>T (p.Ile31=) rs1217091968 0.00013
NM_020778.5(ALPK3):c.3720C>T (p.Pro1240=) rs769015282 0.00012
NM_020778.5(ALPK3):c.2529G>A (p.Arg843=) rs139767418 0.00011
NM_020778.5(ALPK3):c.3038G>A (p.Arg1013His) rs201993684 0.00008
NM_020778.5(ALPK3):c.168C>T (p.His56=) rs773308589 0.00007
NM_020778.5(ALPK3):c.3485G>C (p.Gly1162Ala) rs752749949 0.00007
NM_020778.5(ALPK3):c.3115C>T (p.Arg1039Cys) rs753321062 0.00006
NM_020778.5(ALPK3):c.4021T>C (p.Cys1341Arg) rs369768389 0.00006
NM_020778.5(ALPK3):c.2833C>T (p.Arg945Trp) rs565789183 0.00005
NM_020778.5(ALPK3):c.2642C>T (p.Ala881Val) rs375943296 0.00004
NM_020778.5(ALPK3):c.322G>A (p.Val108Met) rs151295172 0.00004
NM_020778.5(ALPK3):c.4061C>T (p.Ser1354Leu) rs377340628 0.00004
NM_020778.5(ALPK3):c.655G>A (p.Asp219Asn) rs148244525 0.00004
NM_020778.5(ALPK3):c.2344G>A (p.Ala782Thr) rs763620385 0.00003
NM_020778.5(ALPK3):c.3619A>C (p.Thr1207Pro) rs375198700 0.00003
NM_020778.5(ALPK3):c.3940C>T (p.Arg1314Cys) rs147819987 0.00003
NM_020778.5(ALPK3):c.3941G>A (p.Arg1314His) rs746125587 0.00003
NM_020778.5(ALPK3):c.-176C>T rs917686425 0.00001
NM_020778.5(ALPK3):c.1663T>A (p.Cys555Ser) rs777777303 0.00001
NM_020778.5(ALPK3):c.2568T>G (p.Pro856=) rs760005405 0.00001
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter) rs200889953 0.00001
NM_020778.5(ALPK3):c.4193G>T (p.Trp1398Leu) rs756411505 0.00001
NM_020778.5(ALPK3):c.4415G>C (p.Cys1472Ser) rs1963971755 0.00001
NM_020778.5(ALPK3):c.597C>T (p.Ser199=) rs371762258 0.00001
NM_020778.4:c.(788+1_789-1)_(910+1_911-1)del
NM_020778.5(ALPK3):c.1070C>T (p.Thr357Ile) rs16974569
NM_020778.5(ALPK3):c.1305G>A (p.Gln435=) rs776875875
NM_020778.5(ALPK3):c.1688T>G (p.Met563Arg) rs150028343
NM_020778.5(ALPK3):c.185G>C (p.Ser62Thr) rs935660098
NM_020778.5(ALPK3):c.1992G>C (p.Gln664His) rs200842914
NM_020778.5(ALPK3):c.2130G>A (p.Thr710=) rs147611382
NM_020778.5(ALPK3):c.242C>T (p.Thr81Ile) rs200966727
NM_020778.5(ALPK3):c.278A>G (p.Asp93Gly) rs116077141
NM_020778.5(ALPK3):c.3037C>T (p.Arg1013Cys) rs142109538
NM_020778.5(ALPK3):c.3136C>T (p.Arg1046Cys) rs34414438
NM_020778.5(ALPK3):c.3524C>G (p.Ala1175Gly) rs2505722198
NM_020778.5(ALPK3):c.3688GAG[2] (p.Glu1232del) rs2505722662
NM_020778.5(ALPK3):c.4072G>A (p.Asp1358Asn) rs780843840
NM_020778.5(ALPK3):c.5057C>G (p.Thr1686Ser) rs757392253
NM_020778.5(ALPK3):c.529A>T (p.Ile177Phe)
NM_020778.5(ALPK3):c.723G>A (p.Glu241=) rs3803406
NM_020778.5(ALPK3):c.751C>T (p.Gln251Ter) rs1963641493
NM_020778.5:c.(304+1_305-1)_(422+1_423-1)del

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