ClinVar Miner

List of variants in gene ALPK3 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys) rs141449225 0.00067
NM_020778.5(ALPK3):c.2965G>A (p.Gly989Arg) rs115074675 0.00056
NM_020778.5(ALPK3):c.1982T>A (p.Met661Lys) rs150227073 0.00046
NM_020778.5(ALPK3):c.938G>A (p.Gly313Glu) rs148547083 0.00038
NM_020778.5(ALPK3):c.4939A>T (p.Arg1647Trp) rs115364627 0.00034
NM_020778.5(ALPK3):c.3302G>A (p.Gly1101Asp) rs201049076 0.00029
NM_020778.5(ALPK3):c.1738G>A (p.Gly580Arg) rs143892088 0.00028
NM_020778.5(ALPK3):c.4808T>C (p.Leu1603Pro) rs145058237 0.00028
NM_020778.5(ALPK3):c.4387A>G (p.Arg1463Gly) rs147450988 0.00026
NM_020778.5(ALPK3):c.1412C>T (p.Thr471Ile) rs143709902 0.00024
NM_020778.5(ALPK3):c.4156A>G (p.Met1386Val) rs149627415 0.00024
NM_020778.5(ALPK3):c.2674G>A (p.Gly892Arg) rs145983200 0.00023
NM_020778.5(ALPK3):c.832G>A (p.Gly278Arg) rs573106150 0.00023
NM_020778.5(ALPK3):c.3026G>A (p.Arg1009Gln) rs138597569 0.00022
NM_020778.5(ALPK3):c.3596G>A (p.Ser1199Asn) rs372009130 0.00021
NM_020778.5(ALPK3):c.80G>A (p.Gly27Asp) rs931782668 0.00021
NM_020778.5(ALPK3):c.1691C>T (p.Ser564Leu) rs200540710 0.00019
NM_020778.5(ALPK3):c.1207C>T (p.Pro403Ser) rs761234447 0.00018
NM_020778.5(ALPK3):c.2146G>A (p.Ala716Thr) rs201330184 0.00017
NM_020778.5(ALPK3):c.653C>T (p.Pro218Leu) rs373555781 0.00017
NM_020778.5(ALPK3):c.4765C>T (p.Leu1589Phe) rs1012634268 0.00016
NM_020778.4(ALPK3):c.374C>T (p.Ala125Val) rs539539451 0.00015
NM_020778.5(ALPK3):c.2831G>A (p.Gly944Glu) rs558514709 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.3832C>T (p.Arg1278Trp) rs201413329 0.00014
NM_020778.5(ALPK3):c.712C>T (p.Pro238Ser) rs138094037 0.00014
NM_020778.5(ALPK3):c.1226A>G (p.Gln409Arg) rs765187060 0.00013
NM_020778.5(ALPK3):c.3647C>T (p.Thr1216Met) rs767667447 0.00013
NM_020778.5(ALPK3):c.4381G>C (p.Val1461Leu) rs143835594 0.00013
NM_020778.5(ALPK3):c.1036A>C (p.Ile346Leu) rs201336763 0.00011
NM_020778.5(ALPK3):c.4448A>G (p.Lys1483Arg) rs367667489 0.00011
NM_020778.5(ALPK3):c.4600G>A (p.Glu1534Lys) rs765401924 0.00011
NM_020778.5(ALPK3):c.62G>T (p.Gly21Val) rs1415475314 0.00011
NM_020778.5(ALPK3):c.221A>C (p.Glu74Ala) rs533505673 0.00010
NM_020778.5(ALPK3):c.3752T>C (p.Val1251Ala) rs762986369 0.00009
NM_020778.5(ALPK3):c.3038G>A (p.Arg1013His) rs201993684 0.00008
NM_020778.5(ALPK3):c.5003G>A (p.Arg1668Gln) rs370296349 0.00008
NM_020778.5(ALPK3):c.3137G>A (p.Arg1046His) rs184951836 0.00007
NM_020778.5(ALPK3):c.3485G>C (p.Gly1162Ala) rs752749949 0.00007
NM_020778.5(ALPK3):c.3950G>A (p.Gly1317Asp) rs148887150 0.00007
NM_020778.5(ALPK3):c.3986C>T (p.Ala1329Val) rs140665587 0.00007
NM_020778.5(ALPK3):c.5002C>T (p.Arg1668Trp) rs148009523 0.00007
NM_020778.4(ALPK3):c.301G>A (p.Gly101Arg) rs868375261 0.00006
NM_020778.5(ALPK3):c.133C>T (p.Pro45Ser) rs941969303 0.00006
NM_020778.5(ALPK3):c.2543C>T (p.Pro848Leu) rs372536101 0.00006
NM_020778.5(ALPK3):c.256C>T (p.Arg86Trp) rs201202701 0.00006
NM_020778.5(ALPK3):c.3113G>A (p.Arg1038His) rs146371614 0.00006
NM_020778.5(ALPK3):c.4309G>A (p.Glu1437Lys) rs747233148 0.00006
NM_020778.5(ALPK3):c.4726G>A (p.Val1576Ile) rs769823625 0.00006
NM_020778.5(ALPK3):c.4033C>T (p.Arg1345Trp) rs748989211 0.00005
NM_020778.5(ALPK3):c.4883C>T (p.Pro1628Leu) rs371706327 0.00005
NM_020778.5(ALPK3):c.5027C>G (p.Ala1676Gly) rs150250443 0.00005
NM_020778.5(ALPK3):c.2444G>A (p.Gly815Glu) rs199907297 0.00004
NM_020778.5(ALPK3):c.245C>T (p.Thr82Met) rs369383271 0.00004
NM_020778.5(ALPK3):c.3116G>A (p.Arg1039His) rs375717780 0.00004
NM_020778.5(ALPK3):c.322G>A (p.Val108Met) rs151295172 0.00004
NM_020778.5(ALPK3):c.4040C>T (p.Thr1347Ile) rs772261260 0.00004
NM_020778.5(ALPK3):c.4061C>T (p.Ser1354Leu) rs377340628 0.00004
NM_020778.5(ALPK3):c.4092G>C (p.Glu1364Asp) rs778715401 0.00004
NM_020778.5(ALPK3):c.4489G>A (p.Glu1497Lys) rs201240006 0.00004
NM_020778.5(ALPK3):c.4637G>C (p.Ser1546Thr) rs373750743 0.00004
NM_020778.5(ALPK3):c.5113C>T (p.Arg1705Trp) rs143300163 0.00004
NM_020778.5(ALPK3):c.595A>G (p.Ser199Gly) rs780267653 0.00004
NM_020778.4(ALPK3):c.314C>T (p.Thr105Met) rs1280728775 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_020778.5(ALPK3):c.298G>A (p.Val100Ile) rs535488179 0.00003
NM_020778.5(ALPK3):c.3400G>A (p.Ala1134Thr) rs761129046 0.00003
NM_020778.5(ALPK3):c.3488C>T (p.Ala1163Val) rs755941827 0.00003
NM_020778.5(ALPK3):c.3941G>A (p.Arg1314His) rs746125587 0.00003
NM_020778.5(ALPK3):c.4224C>T (p.Ser1408=) rs773522765 0.00003
NM_020778.5(ALPK3):c.704C>T (p.Pro235Leu) rs774126835 0.00003
NM_020778.5(ALPK3):c.716C>T (p.Thr239Ile) rs559342068 0.00003
NM_020778.5(ALPK3):c.895G>A (p.Ala299Thr) rs115195927 0.00003
NM_020778.4(ALPK3):c.393dup (p.Pro132Alafs) rs949029471 0.00002
NM_020778.5(ALPK3):c.-77G>A rs961911481 0.00002
NM_020778.5(ALPK3):c.109C>T (p.Arg37Trp) rs1229697421 0.00002
NM_020778.5(ALPK3):c.186C>T (p.Ser62=) rs116058119 0.00002
NM_020778.5(ALPK3):c.2456G>A (p.Arg819Gln) rs116079740 0.00002
NM_020778.5(ALPK3):c.2848C>T (p.Arg950Trp) rs762163130 0.00002
NM_020778.5(ALPK3):c.3025C>T (p.Arg1009Trp) rs765812547 0.00002
NM_020778.5(ALPK3):c.3050G>A (p.Arg1017His) rs776844237 0.00002
NM_020778.5(ALPK3):c.3580C>T (p.Arg1194Trp) rs369492331 0.00002
NM_020778.5(ALPK3):c.3875T>G (p.Leu1292Arg) rs1468829214 0.00002
NM_020778.5(ALPK3):c.4469G>A (p.Arg1490Gln) rs752155273 0.00002
NC_000015.10:g.84816907G>C rs751652599 0.00001
NM_020778.4(ALPK3):c.173C>T (p.Pro58Leu) rs1057523682 0.00001
NM_020778.4(ALPK3):c.407C>G (p.Ser136Cys) rs1249463407 0.00001
NM_020778.5(ALPK3):c.1079C>T (p.Pro360Leu) rs1963647073 0.00001
NM_020778.5(ALPK3):c.1183A>G (p.Thr395Ala) rs1285409508 0.00001
NM_020778.5(ALPK3):c.1765G>A (p.Asp589Asn) rs146892833 0.00001
NM_020778.5(ALPK3):c.230C>T (p.Pro77Leu) rs372130536 0.00001
NM_020778.5(ALPK3):c.26G>A (p.Arg9Gln) rs759651543 0.00001
NM_020778.5(ALPK3):c.2798A>T (p.Glu933Val) rs758445691 0.00001
NM_020778.5(ALPK3):c.3086C>A (p.Thr1029Asn) rs1051437969 0.00001
NM_020778.5(ALPK3):c.3112C>T (p.Arg1038Cys) rs374436550 0.00001
NM_020778.5(ALPK3):c.3263C>T (p.Ala1088Val) rs370119129 0.00001
NM_020778.5(ALPK3):c.331T>C (p.Tyr111His) rs1040012286 0.00001
NM_020778.5(ALPK3):c.3451C>T (p.Leu1151Phe) rs779886712 0.00001
NM_020778.5(ALPK3):c.3635G>C (p.Arg1212Thr) rs749791830 0.00001
NM_020778.5(ALPK3):c.3737G>A (p.Gly1246Asp) rs1963898743 0.00001
NM_020778.5(ALPK3):c.3824A>G (p.Gln1275Arg) rs1390037202 0.00001
NM_020778.5(ALPK3):c.4034G>A (p.Arg1345Gln) rs768456090 0.00001
NM_020778.5(ALPK3):c.4174C>G (p.Leu1392Val) rs771958254 0.00001
NM_020778.5(ALPK3):c.4394A>G (p.Tyr1465Cys) rs771616717 0.00001
NM_020778.5(ALPK3):c.4466C>T (p.Ala1489Val) rs145438318 0.00001
NM_020778.5(ALPK3):c.461C>T (p.Ala154Val) rs913849174 0.00001
NM_020778.5(ALPK3):c.4622C>T (p.Pro1541Leu) rs767340370 0.00001
NM_020778.5(ALPK3):c.4940G>A (p.Arg1647Lys) rs772672818 0.00001
NM_020778.5(ALPK3):c.5060A>C (p.Gln1687Pro) rs781341096 0.00001
NM_020778.5(ALPK3):c.512C>A (p.Thr171Asn) rs774567371 0.00001
NM_020778.5(ALPK3):c.515T>G (p.Met172Arg) rs767791247 0.00001
NM_020778.5(ALPK3):c.532C>T (p.His178Tyr) rs892109121 0.00001
NM_020778.4(ALPK3):c.352G>A (p.Gly118Arg)
NM_020778.4(ALPK3):c.399dup (p.Gly134Argfs) rs769496975
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs) rs527847958
NM_020778.5(ALPK3):c.-10G>T rs1057523686
NM_020778.5(ALPK3):c.-83C>G
NM_020778.5(ALPK3):c.1043G>A (p.Ser348Asn) rs2141556874
NM_020778.5(ALPK3):c.1051G>A (p.Glu351Lys)
NM_020778.5(ALPK3):c.1127G>A (p.Arg376Gln) rs755210023
NM_020778.5(ALPK3):c.1214CAGGCC[3] (p.403PG[4]) rs755561788
NM_020778.5(ALPK3):c.1223G>A (p.Gly408Asp)
NM_020778.5(ALPK3):c.1241C>G (p.Ser414Cys) rs758630539
NM_020778.5(ALPK3):c.126C>A (p.Ser42Arg) rs909121019
NM_020778.5(ALPK3):c.1288G>T (p.Gly430Trp) rs2141557079
NM_020778.5(ALPK3):c.1342G>A (p.Gly448Arg) rs750284989
NM_020778.5(ALPK3):c.1443G>T (p.Lys481Asn)
NM_020778.5(ALPK3):c.155A>C (p.Asn52Thr) rs1057518517
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr) rs150028343
NM_020778.5(ALPK3):c.1688T>G (p.Met563Arg) rs150028343
NM_020778.5(ALPK3):c.168C>T (p.His56=)
NM_020778.5(ALPK3):c.1901G>A (p.Arg634His) rs34906636
NM_020778.5(ALPK3):c.2093TGCAGGGAGAGAAGGGGA[1] (p.698MQGEKG[1]) rs759322802
NM_020778.5(ALPK3):c.2197G>A (p.Gly733Ser) rs34443853
NM_020778.5(ALPK3):c.2285G>T (p.Gly762Val)
NM_020778.5(ALPK3):c.2510A>T (p.Gln837Leu) rs1057524086
NM_020778.5(ALPK3):c.2679C>G (p.Ser893Arg)
NM_020778.5(ALPK3):c.2833C>T (p.Arg945Trp)
NM_020778.5(ALPK3):c.2842G>A (p.Gly948Ser) rs1217503979
NM_020778.5(ALPK3):c.2845C>T (p.Pro949Ser)
NM_020778.5(ALPK3):c.2986A>G (p.Thr996Ala)
NM_020778.5(ALPK3):c.3017T>G (p.Leu1006Arg) rs1963884081
NM_020778.5(ALPK3):c.3272G>A (p.Gly1091Asp)
NM_020778.5(ALPK3):c.3289_3290delinsTT (p.Pro1097Phe) rs2141568853
NM_020778.5(ALPK3):c.3304C>G (p.Leu1102Val)
NM_020778.5(ALPK3):c.3509C>G (p.Pro1170Arg) rs1273597463
NM_020778.5(ALPK3):c.3531C>G (p.Asp1177Glu) rs115438635
NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp) rs537104966
NM_020778.5(ALPK3):c.4037G>A (p.Cys1346Tyr)
NM_020778.5(ALPK3):c.4057G>C (p.Gly1353Arg)
NM_020778.5(ALPK3):c.4070C>G (p.Thr1357Ser) rs1064796135
NM_020778.5(ALPK3):c.4194G>T (p.Trp1398Cys) rs780428798
NM_020778.5(ALPK3):c.4214G>A (p.Arg1405Gln)
NM_020778.5(ALPK3):c.422G>A (p.Arg141Lys) rs772815322
NM_020778.5(ALPK3):c.4247A>G (p.Tyr1416Cys)
NM_020778.5(ALPK3):c.425G>T (p.Cys142Phe) rs2141556129
NM_020778.5(ALPK3):c.4291G>A (p.Gly1431Arg) rs750258262
NM_020778.5(ALPK3):c.4313C>G (p.Ser1438Trp)
NM_020778.5(ALPK3):c.4322C>A (p.Thr1441Lys) rs141398841
NM_020778.5(ALPK3):c.4598G>T (p.Arg1533Leu) rs776664645
NM_020778.5(ALPK3):c.4610G>A (p.Cys1537Tyr)
NM_020778.5(ALPK3):c.4687T>C (p.Trp1563Arg)
NM_020778.5(ALPK3):c.4729G>T (p.Asp1577Tyr)
NM_020778.5(ALPK3):c.4816C>T (p.Arg1606Trp) rs769796609
NM_020778.5(ALPK3):c.4863dup (p.Leu1622fs) rs1555436332
NM_020778.5(ALPK3):c.4979G>A (p.Gly1660Asp) rs1064796120
NM_020778.5(ALPK3):c.5027C>T (p.Ala1676Val) rs150250443
NM_020778.5(ALPK3):c.5057C>G (p.Thr1686Ser) rs757392253
NM_020778.5(ALPK3):c.635C>A (p.Thr212Asn)
NM_020778.5(ALPK3):c.658C>T (p.Arg220Cys)
NM_020778.5(ALPK3):c.826A>G (p.Thr276Ala) rs764928810

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