ClinVar Miner

List of variants in gene ALPK3 studied for cardiovascular disorder

Included ClinVar conditions (1473):
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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_020778.4(ALPK3):c.194A>G (p.His65Arg) rs28431354 0.03031
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp) rs55752937 0.02339
NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg) rs55702300 0.02213
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg) rs78778733 0.01836
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys) rs35633849 0.01835
NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp) rs34775428 0.01753
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
NM_020778.5(ALPK3):c.3362A>G (p.Gln1121Arg) rs114132013 0.00860
NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp) rs34409363 0.00292
NM_020778.5(ALPK3):c.1336C>A (p.Pro446Thr) rs199986476 0.00202
NM_020778.5(ALPK3):c.1676C>T (p.Thr559Met) rs16974569 0.00181
NM_020778.5(ALPK3):c.3624A>G (p.Pro1208=) rs368494764 0.00150
NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys) rs141449225 0.00067
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.2205A>G (p.Pro735=) rs116418403 0.00032
NM_020778.4(ALPK3):c.154C>T (p.Pro52Ser) rs373853510 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.4448A>G (p.Lys1483Arg) rs367667489 0.00011
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp) rs56191073 0.00009
NM_020778.5(ALPK3):c.3038G>A (p.Arg1013His) rs201993684 0.00008
NM_020778.5(ALPK3):c.3485G>C (p.Gly1162Ala) rs752749949 0.00007
NM_020778.5(ALPK3):c.256C>T (p.Arg86Trp) rs201202701 0.00006
NM_020778.5(ALPK3):c.4883C>T (p.Pro1628Leu) rs371706327 0.00005
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter) rs749465164 0.00004
NM_020778.5(ALPK3):c.322G>A (p.Val108Met) rs151295172 0.00004
NM_020778.5(ALPK3):c.4200C>G (p.Asp1400Glu) rs372818428 0.00004
NM_020778.5(ALPK3):c.4499+2dup rs753084997 0.00004
NM_020778.5(ALPK3):c.2391C>A (p.Asn797Lys) rs368089654 0.00003
NM_020778.5(ALPK3):c.297del (p.Ile99fs) rs770674513 0.00002
NM_020778.5(ALPK3):c.4130-1G>A rs762110595 0.00002
NM_020778.5(ALPK3):c.4184C>G (p.Ser1395Cys) rs192472249 0.00002
NM_020778.5(ALPK3):c.1765G>A (p.Asp589Asn) rs146892833 0.00001
NM_020778.5(ALPK3):c.2470dup (p.Ser824fs) rs1567093598 0.00001
NM_020778.5(ALPK3):c.3340C>T (p.Arg1114Ter) rs751041696 0.00001
NM_020778.5(ALPK3):c.4213C>T (p.Arg1405Ter) rs1344615174 0.00001
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter) rs1431206462 0.00001
NM_020778.5(ALPK3):c.4768C>T (p.Arg1590Ter) rs541612157 0.00001
NM_020778.5(ALPK3):c.515T>G (p.Met172Arg) rs767791247 0.00001
NM_020778.4(ALPK3):c.5019del rs2141573290
NM_020778.5(ALPK3):c.1036_1039dup (p.Pro347fs)
NM_020778.5(ALPK3):c.1103_1113del (p.Thr368fs)
NM_020778.5(ALPK3):c.1126C>T (p.Arg376Trp)
NM_020778.5(ALPK3):c.1204del (p.Ala402fs)
NM_020778.5(ALPK3):c.1417del (p.Gln473fs) rs769139957
NM_020778.5(ALPK3):c.182+1G>T
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer) rs2141567430
NM_020778.5(ALPK3):c.2198G>A (p.Gly733Asp)
NM_020778.5(ALPK3):c.2237del (p.Gly746fs) rs1596155145
NM_020778.5(ALPK3):c.2284G>A (p.Gly762Arg)
NM_020778.5(ALPK3):c.2471delinsTCATT (p.Ser824fs) rs2141567902
NM_020778.5(ALPK3):c.2645_2670del (p.Gly882fs) rs1963877824
NM_020778.5(ALPK3):c.277G>A (p.Asp93Asn)
NM_020778.5(ALPK3):c.3186G>A (p.Trp1062Ter) rs1555435531
NM_020778.5(ALPK3):c.3381del (p.Ser1129fs) rs2141569005
NM_020778.5(ALPK3):c.3409_3436del (p.Pro1137fs)
NM_020778.5(ALPK3):c.3472G>A (p.Glu1158Lys)
NM_020778.5(ALPK3):c.3569C>T (p.Thr1190Met)
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) rs777315336
NM_020778.5(ALPK3):c.3581G>A (p.Arg1194Gln) rs543260061
NM_020778.5(ALPK3):c.3609dup (p.Ser1204fs)
NM_020778.5(ALPK3):c.3635_3636del (p.Arg1212fs) rs2141569401
NM_020778.5(ALPK3):c.3691G>T (p.Glu1231Ter)
NM_020778.5(ALPK3):c.371C>A (p.Pro124Gln)
NM_020778.5(ALPK3):c.3726del (p.Lys1243fs) rs745688425
NM_020778.5(ALPK3):c.3748G>A (p.Glu1250Lys)
NM_020778.5(ALPK3):c.3772C>T (p.Gln1258Ter)
NM_020778.5(ALPK3):c.3842G>C (p.Arg1281Pro)
NM_020778.5(ALPK3):c.4037G>A (p.Cys1346Tyr)
NM_020778.5(ALPK3):c.4057G>C (p.Gly1353Arg)
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter) rs200889953
NM_020778.5(ALPK3):c.4130-4T>G
NM_020778.5(ALPK3):c.4144G>T (p.Glu1382Ter)
NM_020778.5(ALPK3):c.4199del (p.Asp1400fs) rs1567095321
NM_020778.5(ALPK3):c.4291G>A (p.Gly1431Arg) rs750258262
NM_020778.5(ALPK3):c.432_435dup (p.Asp146fs)
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs) rs1450218521
NM_020778.5(ALPK3):c.4525C>T (p.Arg1509Trp)
NM_020778.5(ALPK3):c.4688G>A (p.Trp1563Ter) rs1555436118
NM_020778.5(ALPK3):c.4689G>A (p.Trp1563Ter)
NM_020778.5(ALPK3):c.4900del (p.Gln1634fs)
NM_020778.5(ALPK3):c.5009G>A (p.Ser1670Asn)
NM_020778.5(ALPK3):c.5115del (p.Ter1706SerextTer?) rs753251432
NM_020778.5(ALPK3):c.691C>T (p.Gln231Ter)
NM_020778.5(ALPK3):c.76dup (p.Asp26fs)
NM_020778.5(ALPK3):c.775C>T (p.Gln259Ter)
NM_020778.5(ALPK3):c.831C>A (p.Asn277Lys)
NM_020778.5(ALPK3):c.904C>A (p.Leu302Met)
NM_020778.5(ALPK3):c.913C>T (p.Gln305Ter) rs1225841418
NM_020778.5(ALPK3):c.926_927del (p.Lys309fs)

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