ClinVar Miner

List of variants reported as uncertain significance for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Counsyl

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Total variants: 33
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HGVS dbSNP
NM_000016.5(ACADM):c.-17C>G rs367734665
NM_000016.5(ACADM):c.1073A>T (p.Lys358Met) rs988752772
NM_000016.5(ACADM):c.1184A>G (p.Lys395Arg) rs776312173
NM_000016.5(ACADM):c.1205G>T (p.Gly402Val) rs1553127382
NM_000016.5(ACADM):c.1247T>C (p.Ile416Thr) rs760892123
NM_000016.5(ACADM):c.1249_1251del (p.Asp417del) rs1553127399
NM_000016.5(ACADM):c.1264T>G (p.Ter422Glu) rs1553127400
NM_000016.5(ACADM):c.1265A>T (p.Ter422Leu) rs200376609
NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) rs757434857
NM_000016.5(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.5(ACADM):c.212G>A (p.Gly71Asp) rs1553122943
NM_000016.5(ACADM):c.356T>A (p.Val119Asp) rs1553123077
NM_000016.5(ACADM):c.387+2dup rs1553123086
NM_000016.5(ACADM):c.388-19T>A rs1553123252
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.388-5G>A rs759254037
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.5(ACADM):c.473A>G (p.Tyr158Cys) rs1553123858
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.599+5G>A rs875989861
NM_000016.5(ACADM):c.708+6G>T rs958629659
NM_000016.5(ACADM):c.709-13A>G rs746483754
NM_000016.5(ACADM):c.850-3_850-2insTAAAAT rs1553125391
NM_000016.5(ACADM):c.850-8_850-7insTATCTTAAAATACTTAA rs1553125389
NM_000016.5(ACADM):c.907G>A (p.Ala303Thr) rs875989855
NM_001286042.1(ACADM):c.10+3629_10+3631dup rs760137614
NM_001286044.1(ACADM):c.-29_-27del rs776120077
NM_001286044.1(ACADM):c.-32_1del (p.Met1del) rs1553123869
NM_001286044.1(ACADM):c.-58_-41del rs1553123864

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