ClinVar Miner

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

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Gene type:
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala) rs373057729 0.00004
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000016.6(ACADM):c.216+5G>T rs528788578 0.00003
NM_000016.6(ACADM):c.599+3A>G rs375921211 0.00003
NM_000016.6(ACADM):c.1055A>G (p.Tyr352Cys) rs1227800781 0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr) rs121434275 0.00001
NM_000016.6(ACADM):c.30+4A>G rs774531501 0.00001
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg) rs875989854 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000016.6(ACADM):c.659C>T (p.Thr220Ile) rs766249735 0.00001
NM_000016.6(ACADM):c.708G>C (p.Lys236Asn) rs1185026485 0.00001
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys) rs1348176225 0.00001
NC_000001.10:g.(?_76199203)_(76205805_?)dup
NC_000001.10:g.(?_76211471)_(76211619_?)dup
NC_000001.10:g.(?_76216126)_(76216241_?)del
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu) rs760335676
NM_000016.6(ACADM):c.1054T>G (p.Tyr352Asp) rs1557466834
NM_000016.6(ACADM):c.1066A>G (p.Ile356Val)
NM_000016.6(ACADM):c.1177G>A (p.Asp393Asn)
NM_000016.6(ACADM):c.118+10C>A
NM_000016.6(ACADM):c.118+1G>T rs113887538
NM_000016.6(ACADM):c.1188C>G (p.Ile396Met)
NM_000016.6(ACADM):c.119-1G>C rs1647165465
NM_000016.6(ACADM):c.1205G>A (p.Gly402Asp)
NM_000016.6(ACADM):c.1253A>G (p.Lys418Arg)
NM_000016.6(ACADM):c.135G>C (p.Gln45His)
NM_000016.6(ACADM):c.166G>C (p.Ala56Pro)
NM_000016.6(ACADM):c.221C>T (p.Pro74Leu) rs1647169888
NM_000016.6(ACADM):c.232A>G (p.Ile78Val) rs2100363487
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr) rs1448376709
NM_000016.6(ACADM):c.287-1G>C rs794727694
NM_000016.6(ACADM):c.287-2A>G rs1057518677
NM_000016.6(ACADM):c.31-2A>G rs766727876
NM_000016.6(ACADM):c.310G>A (p.Asp104Asn) rs2100365770
NM_000016.6(ACADM):c.311A>G (p.Asp104Gly) rs1647187729
NM_000016.6(ACADM):c.321A>C (p.Leu107Phe) rs2100365813
NM_000016.6(ACADM):c.337G>A (p.Ala113Thr) rs1570863351
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala) rs1647188699
NM_000016.6(ACADM):c.388-19T>A rs1553123252
NM_000016.6(ACADM):c.388-1G>A rs2100370448
NM_000016.6(ACADM):c.395C>A (p.Pro132His)
NM_000016.6(ACADM):c.469-2A>G
NM_000016.6(ACADM):c.493G>A (p.Ala165Thr)
NM_000016.6(ACADM):c.494C>T (p.Ala165Val) rs1260394550
NM_000016.6(ACADM):c.503A>G (p.Asp168Gly) rs745844469
NM_000016.6(ACADM):c.530A>G (p.Glu177Gly)
NM_000016.6(ACADM):c.555T>G (p.Ile185Met) rs1647481193
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.6(ACADM):c.584G>A (p.Gly195Glu)
NM_000016.6(ACADM):c.589A>G (p.Lys197Glu) rs1199770829
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr) rs1647485086
NM_000016.6(ACADM):c.600-1G>A rs2100407767
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr) rs983879715
NM_000016.6(ACADM):c.659C>G (p.Thr220Ser)
NM_000016.6(ACADM):c.683C>T (p.Thr228Ile) rs149678400
NM_000016.6(ACADM):c.721G>A (p.Gly241Ser) rs2100417374
NM_000016.6(ACADM):c.744A>C (p.Arg248Ser) rs2100417476
NM_000016.6(ACADM):c.820A>G (p.Met274Val)
NM_000016.6(ACADM):c.859G>C (p.Gly287Arg)
NM_000016.6(ACADM):c.950A>T (p.Gln317Leu) rs1557466604
NM_000016.6(ACADM):c.983T>C (p.Met328Thr)

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