ClinVar Miner

List of variants in gene ALPK3 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_020778.5(ALPK3):c.304+155C>G rs115838012 0.01349
NM_020778.5(ALPK3):c.183-172C>T rs891285 0.01224
NM_020778.5(ALPK3):c.183-242C>T rs891284 0.01224
NM_020778.5(ALPK3):c.4723+23G>A rs73437966 0.01137
NM_020778.5(ALPK3):c.423-233C>A rs73437946 0.01065
NM_020778.5(ALPK3):c.423-173A>T rs73437949 0.01062
NM_020778.5(ALPK3):c.144-28A>G rs114536068 0.01030
NM_020778.5(ALPK3):c.3817+124C>T rs114929985 0.00962
NM_020778.5(ALPK3):c.183-248C>G rs79825359 0.00959
NM_020778.5(ALPK3):c.3965+101C>T rs116770529 0.00945
NM_020778.5(ALPK3):c.305-257G>A rs184001384 0.00812
NM_020778.5(ALPK3):c.4130-169G>C rs139859971 0.00678
NM_020778.5(ALPK3):c.4129+97A>G rs114931667 0.00584
NM_020778.5(ALPK3):c.182+23T>G rs28495917 0.00498
NM_020778.5(ALPK3):c.*49G>A rs151129622 0.00435
NM_020778.5(ALPK3):c.183-128C>T rs142926230 0.00433
NM_020778.5(ALPK3):c.144-83G>A rs142151750 0.00392
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=) rs114957070 0.00386
NM_020778.5(ALPK3):c.4499+211T>C rs140730624 0.00386
NM_020778.5(ALPK3):c.4093+37C>T rs150130260 0.00377
NM_020778.5(ALPK3):c.123C>T (p.Leu41=) rs78638069 0.00345
NM_020778.5(ALPK3):c.2367T>C (p.Thr789=) rs55727747 0.00290
NM_020778.5(ALPK3):c.5091G>A (p.Glu1697=) rs116608834 0.00271
NM_020778.5(ALPK3):c.1336C>A (p.Pro446Thr) rs199986476 0.00202
NM_020778.5(ALPK3):c.3965+11G>A rs117116043 0.00175
NM_020778.5(ALPK3):c.4063G>A (p.Ala1355Thr) rs114686452 0.00171
NM_020778.5(ALPK3):c.3624A>G (p.Pro1208=) rs368494764 0.00150
NM_020778.4(ALPK3):c.9G>A (p.Val3=) rs28408840 0.00117
NM_020778.5(ALPK3):c.940G>A (p.Ala314Thr) rs115287026 0.00099
NM_020778.5(ALPK3):c.2747T>C (p.Leu916Pro) rs150385353 0.00085
NM_020778.5(ALPK3):c.3531C>T (p.Asp1177=) rs115438635 0.00061
NM_020778.5(ALPK3):c.3401C>T (p.Ala1134Val) rs139666355 0.00056
NM_020778.5(ALPK3):c.2469A>G (p.Ser823=) rs201780221 0.00046
NM_020778.5(ALPK3):c.3786C>G (p.Ala1262=) rs202162264 0.00043
NM_020778.5(ALPK3):c.948G>A (p.Lys316=) rs151107093 0.00043
NM_020778.5(ALPK3):c.4071C>T (p.Thr1357=) rs145385507 0.00040
NM_020778.5(ALPK3):c.2223C>T (p.Leu741=) rs138935453 0.00039
NM_020778.5(ALPK3):c.3966-14T>C rs145646854 0.00039
NM_020778.5(ALPK3):c.2262A>G (p.Glu754=) rs143456491 0.00037
NM_020778.5(ALPK3):c.4056C>T (p.His1352=) rs144613098 0.00035
NM_020778.5(ALPK3):c.2205A>G (p.Pro735=) rs116418403 0.00032
NM_020778.5(ALPK3):c.150A>G (p.Ser50=) rs79285448 0.00031
NM_020778.5(ALPK3):c.3354G>A (p.Ala1118=) rs375245603 0.00027
NM_020778.5(ALPK3):c.3702G>A (p.Ala1234=) rs55721004 0.00027
NM_020778.5(ALPK3):c.4899C>G (p.Pro1633=) rs143514559 0.00026
NM_020778.5(ALPK3):c.2528G>A (p.Arg843Gln) rs114988007 0.00024
NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile) rs56015306 0.00020
NM_020778.5(ALPK3):c.4499+46T>G rs2289139 0.00019
NM_020778.5(ALPK3):c.2808C>T (p.Cys936=) rs549842134 0.00018
NM_020778.5(ALPK3):c.3642C>A (p.Ser1214=) rs774275671 0.00016
NM_020778.5(ALPK3):c.-43G>A rs949112384 0.00013
NM_020778.5(ALPK3):c.4458A>G (p.Ala1486=) rs200241564 0.00013
NM_020778.5(ALPK3):c.3720C>T (p.Pro1240=) rs769015282 0.00012
NM_020778.5(ALPK3):c.183-5C>T rs758923137 0.00011
NM_020778.5(ALPK3):c.5064G>A (p.Leu1688=) rs115813516 0.00011
NM_020778.4(ALPK3):c.487A>G (p.Arg163Gly) rs1008637055 0.00010
NM_020778.5(ALPK3):c.297C>A (p.Ile99=) rs770674872 0.00010
NM_020778.5(ALPK3):c.3231C>T (p.Asp1077=) rs142001827 0.00010
NM_020778.4(ALPK3):c.-30G>T rs370679146 0.00009
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp) rs56191073 0.00009
NM_020778.5(ALPK3):c.2934A>G (p.Ala978=) rs574248459 0.00009
NM_020778.5(ALPK3):c.2964C>T (p.Thr988=) rs199749201 0.00009
NM_020778.5(ALPK3):c.4197G>A (p.Gly1399=) rs777711325 0.00009
NM_020778.5(ALPK3):c.4998C>T (p.Gly1666=) rs749593573 0.00007
NM_020778.5(ALPK3):c.-64C>G rs959503280 0.00006
NM_020778.5(ALPK3):c.4500-11A>T rs748934060 0.00005
NM_020778.5(ALPK3):c.2649G>A (p.Pro883=) rs115903792 0.00004
NM_020778.5(ALPK3):c.4314G>A (p.Ser1438=) rs374878079 0.00004
NM_020778.5(ALPK3):c.690T>C (p.Ala230=) rs148538731 0.00004
NM_020778.4(ALPK3):c.292A>C (p.Arg98=) rs994681645 0.00003
NM_020778.5(ALPK3):c.2481C>T (p.Val827=) rs911323614 0.00003
NM_020778.5(ALPK3):c.3732C>T (p.Ala1244=) rs370828206 0.00003
NM_020778.5(ALPK3):c.3817+15G>A rs368481088 0.00003
NM_020778.5(ALPK3):c.4290C>T (p.Tyr1430=) rs755476608 0.00003
NM_020778.5(ALPK3):c.4308C>T (p.Phe1436=) rs567548946 0.00003
NM_020778.5(ALPK3):c.4723+5G>A rs771461497 0.00003
NM_020778.5(ALPK3):c.4902A>G (p.Gln1634=) rs1390506057 0.00003
NM_020778.4(ALPK3):c.105C>T (p.Leu35=) rs149320215 0.00002
NM_020778.5(ALPK3):c.4723+8G>C rs201433304 0.00002
NM_020778.5(ALPK3):c.5001C>G (p.Thr1667=) rs200351712 0.00002
NM_020778.4(ALPK3):c.486T>C (p.Asn162=) rs891136583 0.00001
NM_020778.5(ALPK3):c.2421G>A (p.Glu807=) rs150546362 0.00001
NM_020778.5(ALPK3):c.24C>T (p.Ser8=) rs1301150493 0.00001
NM_020778.5(ALPK3):c.2727C>T (p.Ala909=) rs746482983 0.00001
NM_020778.5(ALPK3):c.2748G>A (p.Leu916=) rs1397241134 0.00001
NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=) rs188837127 0.00001
NM_020778.5(ALPK3):c.4023C>T (p.Cys1341=) rs745724880 0.00001
NM_020778.5(ALPK3):c.4152C>T (p.Thr1384=) rs955410854 0.00001
NM_020778.5(ALPK3):c.4173T>A (p.Gly1391=) rs946844546 0.00001
NM_020778.5(ALPK3):c.4191C>T (p.Cys1397=) rs929049789 0.00001
NM_020778.5(ALPK3):c.597C>T (p.Ser199=) rs371762258 0.00001
NM_020778.5(ALPK3):c.648C>G (p.Leu216=) rs142016958 0.00001
NM_020778.5(ALPK3):c.861C>T (p.Asp287=) rs1287657567 0.00001
NM_020778.5(ALPK3):c.96C>T (p.Pro32=) rs1297411958 0.00001
NC_000015.10:g.84816587_84816588dup rs529219955
NC_000015.10:g.84816588del rs529219955
NM_020778.5(ALPK3):c.135C>G (p.Pro45=) rs369591811
NM_020778.5(ALPK3):c.1422G>A (p.Pro474=) rs147228539
NM_020778.5(ALPK3):c.2157C>A (p.Ala719=) rs1165760143
NM_020778.5(ALPK3):c.2376T>A (p.Gly792=) rs1057524352
NM_020778.5(ALPK3):c.2598G>C (p.Thr866=) rs200842914
NM_020778.5(ALPK3):c.305-341_305-340insATTATTATTATTAT rs145586317
NM_020778.5(ALPK3):c.3818-277C>T rs149202140
NM_020778.5(ALPK3):c.423-19del rs537375112
NM_020778.5(ALPK3):c.4499+20G>A rs1596158144
NM_020778.5(ALPK3):c.4723+16G>A rs1299509017
NM_020778.5(ALPK3):c.4723+4C>T rs560395563
NM_020778.5(ALPK3):c.4724-203_4724-201del rs148614333
NM_020778.5(ALPK3):c.5103C>T (p.Ala1701=) rs527520436
NM_020778.5(ALPK3):c.624G>C (p.Gly208=) rs145003820
NM_020778.5(ALPK3):c.882A>G (p.Thr294=) rs542316430

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