ClinVar Miner

List of variants in gene ACADM reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.599+3A>G rs375921211 0.00003
NM_000016.6(ACADM):c.1238G>A (p.Arg413His) rs1337929727 0.00001
NM_000016.6(ACADM):c.206A>T (p.Lys69Ile) rs927784210 0.00001
GRCh37/hg19 1p31.1(chr1:76088639-76214360)x1
NM_000016.6(ACADM):c.235AGA[1] (p.Arg80del) rs1553122972
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.692T>C (p.Ile231Thr) rs886042072

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