ClinVar Miner

List of variants in gene ACAA1 studied for not specified

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001607.4(ACAA1):c.364C>G (p.Gln122Glu) rs145935424 0.00034
NM_001607.4(ACAA1):c.28C>T (p.His10Tyr) rs769540697 0.00007
NM_001607.4(ACAA1):c.350C>T (p.Ser117Phe) rs772301831 0.00007
NM_001607.4(ACAA1):c.497C>T (p.Ser166Leu) rs146730813 0.00007
NM_001607.4(ACAA1):c.866G>A (p.Arg289Gln) rs756886040 0.00005
NM_001607.4(ACAA1):c.289G>A (p.Gly97Arg) rs759328834 0.00004
NM_001607.4(ACAA1):c.808A>G (p.Thr270Ala) rs370502860 0.00004
NM_001607.4(ACAA1):c.1154G>A (p.Arg385Gln) rs749249005 0.00003
NM_001607.4(ACAA1):c.391G>T (p.Ala131Ser) rs953132629 0.00003
NM_001607.4(ACAA1):c.499C>T (p.Arg167Cys) rs751653410 0.00003
NM_001607.4(ACAA1):c.596A>G (p.Gln199Arg) rs761378746 0.00003
NM_001607.4(ACAA1):c.95A>G (p.Gln32Arg) rs1238674910 0.00003
NM_001607.4(ACAA1):c.214G>C (p.Val72Leu) rs756284410 0.00001
NM_001607.4(ACAA1):c.457A>T (p.Met153Leu) rs762374628 0.00001
NM_001607.4(ACAA1):c.504G>C (p.Leu168Phe) rs1036666382 0.00001
NM_001607.4(ACAA1):c.1030A>G (p.Ile344Val)
NM_001607.4(ACAA1):c.1081C>T (p.Leu361Phe)
NM_001607.4(ACAA1):c.1085C>T (p.Pro362Leu) rs2471558344
NM_001607.4(ACAA1):c.1087C>G (p.Pro363Ala) rs142074753
NM_001607.4(ACAA1):c.1088C>G (p.Pro363Arg)
NM_001607.4(ACAA1):c.134G>T (p.Arg45Leu) rs1004255722
NM_001607.4(ACAA1):c.136A>G (p.Thr46Ala) rs922876523
NM_001607.4(ACAA1):c.166T>G (p.Phe56Val) rs2471584670
NM_001607.4(ACAA1):c.226G>A (p.Val76Met) rs893442512
NM_001607.4(ACAA1):c.247C>A (p.Leu83Met)
NM_001607.4(ACAA1):c.26G>A (p.Gly9Asp) rs2471585512
NM_001607.4(ACAA1):c.35G>A (p.Arg12Lys)
NM_001607.4(ACAA1):c.418G>A (p.Gly140Arg)
NM_001607.4(ACAA1):c.481C>A (p.Pro161Thr)
NM_001607.4(ACAA1):c.488A>G (p.Asn163Ser) rs145740203
NM_001607.4(ACAA1):c.500G>A (p.Arg167His)
NM_001607.4(ACAA1):c.668T>C (p.Ile223Thr)
NM_001607.4(ACAA1):c.86G>C (p.Gly29Ala)
NM_001607.4(ACAA1):c.889G>A (p.Gly297Ser)
NM_001607.4(ACAA1):c.971C>G (p.Ala324Gly)
NM_001607.4(ACAA1):c.97G>A (p.Ala33Thr)
NM_001607.4(ACAA1):c.998G>A (p.Gly333Glu)

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