ClinVar Miner

List of variants in gene ALPK3 reported as benign by GeneDx

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_020778.5(ALPK3):c.4500-109A>C rs2289138 0.86414
NM_020778.5(ALPK3):c.4411-289A>C rs306199 0.85376
NM_020778.5(ALPK3):c.183-118C>G rs891286 0.84323
NM_020778.5(ALPK3):c.3450T>C (p.Gly1150=) rs167379 0.83408
NM_020778.4(ALPK3):c.24T>C (p.Tyr8=) rs11857356 0.81254
NM_020778.5(ALPK3):c.*254A>G rs7172412 0.80345
NM_020778.5(ALPK3):c.3290C>T (p.Pro1097Leu) rs306197 0.78256
NM_020778.5(ALPK3):c.143+216T>G rs7179643 0.77398
NM_020778.5(ALPK3):c.1329G>A (p.Gly443=) rs3803406 0.68083
NM_020778.5(ALPK3):c.305-276C>T rs10852091 0.46320
NM_020778.4(ALPK3):c.-74A>C rs55736017 0.31018
NM_020778.5(ALPK3):c.*5C>T rs3748380 0.27385
NM_020778.5(ALPK3):c.3818-43G>A rs2289141 0.20642
NM_020778.5(ALPK3):c.3965+174A>G rs186266 0.20458
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro) rs187316 0.20037
NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser) rs3803403 0.19072
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu) rs3803405 0.18268
NM_020778.5(ALPK3):c.4129+193G>A rs12907646 0.17050
NM_020778.5(ALPK3):c.1654-174T>C rs73437960 0.14105
NM_020778.5(ALPK3):c.3966-95T>C rs75346033 0.08131
NM_020778.5(ALPK3):c.4500-201A>G rs77303431 0.07578
NM_020778.5(ALPK3):c.4772+308C>T rs59022852 0.07490
NM_020778.5(ALPK3):c.4129+37C>T rs2289140 0.07482
NM_020778.5(ALPK3):c.1654-81C>T rs80014104 0.06894
NM_020778.5(ALPK3):c.3711C>T (p.Asp1237=) rs35931910 0.06807
NM_020778.5(ALPK3):c.4130-210G>C rs11857540 0.05669
NM_020778.5(ALPK3):c.3954G>A (p.Glu1318=) rs34122391 0.05659
NM_020778.5(ALPK3):c.3818-235C>T rs59475469 0.04606
NM_020778.4(ALPK3):c.194A>G (p.His65Arg) rs28431354 0.03031
NM_020778.5(ALPK3):c.4130-230A>T rs16974575 0.02837
NM_020778.5(ALPK3):c.4773-293G>A rs79061571 0.02833
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_020778.4(ALPK3):c.175C>G (p.Arg59Gly) rs115389253 0.00431
NM_020778.5(ALPK3):c.884A>G (p.Tyr295Cys) rs116077141 0.00429
NM_020778.5(ALPK3):c.1710T>C (p.Asp570=) rs56005718 0.00411
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser) rs115292211 0.00382
NM_020778.5(ALPK3):c.2597C>T (p.Thr866Met) rs35292668 0.00380
NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln) rs145993158 0.00351
NM_020778.5(ALPK3):c.4474G>A (p.Ala1492Thr) rs114449938 0.00349
NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp) rs34409363 0.00292
NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val) rs36002219 0.00289
NM_020778.5(ALPK3):c.1676C>T (p.Thr559Met) rs16974569 0.00181
NM_020778.5(ALPK3):c.135C>T (p.Pro45=) rs369591811 0.00062
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.1737C>T (p.Ser579=) rs115301935 0.00032
NC_000015.10:g.84816588dup rs529219955
NM_020778.5(ALPK3):c.305-18C>A rs1896864
NM_020778.5(ALPK3):c.305-341_305-340insAT rs145586317
NM_020778.5(ALPK3):c.305-341_305-340insATTAT rs145586317
NM_020778.5(ALPK3):c.305-341_305-340insATTATTAT rs145586317
NM_020778.5(ALPK3):c.305-341_305-340insATTATTATTAT rs145586317
NM_020778.5(ALPK3):c.305-341del rs72522608

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