ClinVar Miner

List of variants in gene ACADM reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr) rs150710061 0.00031
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000016.6(ACADM):c.388-14A>G rs372525651 0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_000016.6(ACADM):c.709-13A>G rs746483754 0.00002
NM_000016.6(ACADM):c.1019C>T (p.Ala340Val) rs886042054 0.00001
NM_000016.6(ACADM):c.125C>T (p.Thr42Ile) rs759997176 0.00001
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys) rs398123075 0.00001
NM_000016.6(ACADM):c.287-7dup rs886042084 0.00001
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) rs370608001 0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser) rs746136472 0.00001
NM_000016.6(ACADM):c.659C>T (p.Thr220Ile) rs766249735 0.00001
NM_000016.6(ACADM):c.1007G>A (p.Ser336Asn) rs794727013
NM_000016.6(ACADM):c.1022C>T (p.Ala341Val) rs768440594
NM_000016.6(ACADM):c.1054T>G (p.Tyr352Asp) rs1557466834
NM_000016.6(ACADM):c.118G>C (p.Glu40Gln) rs398123071
NM_000016.6(ACADM):c.230T>A (p.Leu77Gln) rs886042053
NM_000016.6(ACADM):c.286G>A (p.Gly96Arg) rs886042055
NM_000016.6(ACADM):c.330A>G (p.Glu110=) rs886042081
NM_000016.6(ACADM):c.385G>T (p.Gly129Trp) rs886042076
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.388-12_388-10del rs398123076
NM_000016.6(ACADM):c.423_425del (p.Lys144del) rs886042087
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.468+7A>T rs398123077
NM_000016.6(ACADM):c.469G>A (p.Ala157Thr) rs794727833
NM_000016.6(ACADM):c.673G>A (p.Glu225Lys) rs886042056
NM_000016.6(ACADM):c.692T>C (p.Ile231Thr) rs886042072
NM_000016.6(ACADM):c.938T>C (p.Leu313Pro) rs886042085

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