ClinVar Miner

List of variants in gene ACADS reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_000017.4(ACADS):c.625-99T>C rs555404 0.51701
NC_000012.12:g.120725715C>A rs2239760 0.39492
NC_000012.12:g.120725458C>T rs3021337 0.31040
NM_000017.4(ACADS):c.*21G>C rs3916 0.21460
NM_000017.4(ACADS):c.473-116T>C rs2014355 0.21375
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000017.4(ACADS):c.47-177C>T rs11065230 0.10332
NC_000012.12:g.120725570T>C rs7303170 0.07643
NM_000017.4(ACADS):c.934-74C>T rs487915 0.05276
NM_000017.4(ACADS):c.*249G>A rs628909 0.04756
NC_000012.12:g.120725537G>T rs644065 0.03931
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_000017.4(ACADS):c.*310C>G rs116733542 0.02741
NM_000017.4(ACADS):c.473-78G>A rs117636828 0.02296
NM_000017.4(ACADS):c.*5G>A rs2229533 0.02244
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640 0.01346
NM_000017.4(ACADS):c.*115G>A rs2229534 0.01325
NM_000017.4(ACADS):c.1029+52C>T rs2071266 0.01321
NM_000017.4(ACADS):c.473-155C>A rs2239687 0.01318
NM_000017.4(ACADS):c.473-149T>G rs12231499 0.01315
NM_000017.4(ACADS):c.625-83G>A rs150191962 0.01034
NC_000012.12:g.120725739G>A rs190307549 0.00719
NM_000017.4(ACADS):c.1029+36G>A rs12315099 0.00365
NM_000017.4(ACADS):c.796-14G>C rs201420791 0.00256
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686 0.00237
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000017.4(ACADS):c.624+8C>T rs371550264 0.00039
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_000017.4(ACADS):c.*4C>T rs774815274 0.00009
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075 0.00006
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.250G>A (p.Val84Met) rs751283667 0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) rs121908006 0.00006
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00003
NM_000017.4(ACADS):c.1105G>A (p.Gly369Ser) rs145466253 0.00002
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val) rs796051905 0.00001
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718 0.00001
NM_000017.4(ACADS):c.322G>A (p.Gly108Ser) rs117356004 0.00001
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer) rs1346829948 0.00001
NM_000017.4(ACADS):c.425C>G (p.Pro142Arg) rs148297461 0.00001
NM_000017.4(ACADS):c.449G>T (p.Gly150Val) rs1057524803 0.00001
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly) rs755856935 0.00001
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880 0.00001
NM_000017.4(ACADS):c.812G>T (p.Gly271Val) rs796051902 0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198 0.00001
NM_000017.4(ACADS):c.1029+89dup rs57852948
NM_000017.4(ACADS):c.1030-41G>A rs140372512
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.154_156del (p.Glu52del)
NM_000017.4(ACADS):c.211-24C>T rs112669327
NM_000017.4(ACADS):c.238del (p.Leu80fs) rs1064793612
NM_000017.4(ACADS):c.302C>T (p.Ala101Val) rs1001298373
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
NM_000017.4(ACADS):c.313A>T (p.Ile105Phe) rs767155955
NM_000017.4(ACADS):c.319_321delinsTGC (p.Arg107Cys) rs1064795254
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter) rs749491616
NM_000017.4(ACADS):c.461T>G (p.Leu154Arg) rs1057523592
NM_000017.4(ACADS):c.473-30G>A rs117000908
NM_000017.4(ACADS):c.473-80G>C rs695950
NM_000017.4(ACADS):c.492_513del (p.Ala165fs) rs745833347
NM_000017.4(ACADS):c.650T>C (p.Met217Thr) rs1472894784
NM_000017.4(ACADS):c.656C>G (p.Thr219Arg) rs148588313
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.721C>A (p.Leu241Ile)
NM_000017.4(ACADS):c.795+1G>A rs752978753
NM_000017.4(ACADS):c.880G>A (p.Ala294Thr) rs770406570
NM_000017.4(ACADS):c.944_946del (p.Ala315del) rs1290727105
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) rs1555244280

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