ClinVar Miner

List of variants in gene ACADVL reported as likely pathogenic by Invitae

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Total variants: 13
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HGVS dbSNP
NM_000018.4(ACADVL):c.1077+1G>T rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.139-1G>T
NM_000018.4(ACADVL):c.1751+2T>C
NM_000018.4(ACADVL):c.1752-2del rs1555529044
NM_000018.4(ACADVL):c.205-2A>G
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.63-2A>C rs1555527513
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.830_832AGA[1] (p.Lys278del) rs769280599

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