ClinVar Miner

List of variants in gene ALPK3 reported as uncertain significance for Cardiomyopathy, familial hypertrophic 27

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Total variants: 49
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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.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.80G>A (p.Gly27Asp) rs931782668 0.00021
NC_000015.10:g.84817000C>T 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.4381G>C (p.Val1461Leu) rs143835594 0.00013
NM_020778.5(ALPK3):c.4448A>G (p.Lys1483Arg) rs367667489 0.00011
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.3950G>A (p.Gly1317Asp) rs148887150 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.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.3104G>A (p.Cys1035Tyr) rs758388457 0.00003
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.230C>T (p.Pro77Leu) rs372130536 0.00001
NM_020778.5(ALPK3):c.515T>G (p.Met172Arg) rs767791247 0.00001
NM_020778.5(ALPK3):c.1126C>T (p.Arg376Trp)
NM_020778.5(ALPK3):c.2198G>A (p.Gly733Asp)
NM_020778.5(ALPK3):c.2284G>A (p.Gly762Arg)
NM_020778.5(ALPK3):c.277G>A (p.Asp93Asn)
NM_020778.5(ALPK3):c.3472G>A (p.Glu1158Lys)
NM_020778.5(ALPK3):c.3491G>A (p.Arg1164Gln) rs1291790142
NM_020778.5(ALPK3):c.3569C>T (p.Thr1190Met)
NM_020778.5(ALPK3):c.3581G>A (p.Arg1194Gln) rs543260061
NM_020778.5(ALPK3):c.3682C>G (p.Arg1228Gly) rs537104966
NM_020778.5(ALPK3):c.371C>A (p.Pro124Gln)
NM_020778.5(ALPK3):c.3748G>A (p.Glu1250Lys)
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.4130-4T>G
NM_020778.5(ALPK3):c.4291G>A (p.Gly1431Arg) rs750258262
NM_020778.5(ALPK3):c.4313C>T (p.Ser1438Leu)
NM_020778.5(ALPK3):c.4525C>T (p.Arg1509Trp)
NM_020778.5(ALPK3):c.4682A>G (p.Tyr1561Cys)
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.831C>A (p.Asn277Lys)
NM_020778.5(ALPK3):c.904C>A (p.Leu302Met)

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