ClinVar Miner

List of variants in gene ACADM reported as likely pathogenic for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala) rs373057729 0.00004
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp) rs773677327 0.00002
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys) rs1648832587 0.00001
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile) rs766140986 0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr) rs875989876 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.6(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.6(ACADM):c.218A>G (p.Tyr73Cys) rs1057521114
NM_000016.6(ACADM):c.224del (p.Val75fs) rs1057516480
NM_000016.6(ACADM):c.253G>A (p.Gly85Ser) rs398123075
NM_000016.6(ACADM):c.355dup (p.Val119fs) rs1553123071
NM_000016.6(ACADM):c.3G>C (p.Met1Ile) rs1553121887
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.468+1G>A
NM_000016.6(ACADM):c.708+1G>A rs1553124803
NM_000016.6(ACADM):c.739A>G (p.Thr247Ala) rs1057518408
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) rs779759347

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