ClinVar Miner

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

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_000016.6(ACADM):c.489T>G (p.Pro163=) rs78392995 0.02136
NM_000016.6(ACADM):c.900C>T (p.Thr300=) rs17097429 0.01131
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000016.6(ACADM):c.678A>G (p.Ala226=) rs2229249 0.00108
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
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.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 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.1238G>A (p.Arg413His) rs1337929727 0.00001
NM_000016.6(ACADM):c.206A>T (p.Lys69Ile) rs927784210 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000016.6(ACADM):c.946-2A>C rs758753966 0.00001
GRCh37/hg19 1p31.1(chr1:76088639-76214360)x1
NM_000016.6(ACADM):c.224del (p.Val75fs) rs1057516480
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.387+1G>A rs1057516983
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.692T>C (p.Ile231Thr) rs886042072
NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer) rs1557457623
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006

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