ClinVar Miner

List of variants studied for Deficiency of 3-hydroxyacyl-CoA dehydrogenase by Invitae

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Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.257T>C (p.Leu86Pro) rs4956145 0.86661
NM_005327.7(HADH):c.257= (p.Leu86=) rs4956145 0.13339
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575 0.00079
NM_005327.7(HADH):c.99C>G (p.Ile33Met) rs74428123 0.00038
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_005327.7(HADH):c.809C>T (p.Thr270Met) rs577954688 0.00017
NM_005327.7(HADH):c.255C>T (p.Asn85=) rs746650397 0.00016
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_005327.7(HADH):c.144A>C (p.Ala48=) rs79881095 0.00011
NM_005327.7(HADH):c.827-10C>T rs372610846 0.00011
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_005327.7(HADH):c.240G>A (p.Lys80=) rs748623569 0.00008
NM_005327.7(HADH):c.361G>A (p.Val121Met) rs377615662 0.00006
NM_005327.7(HADH):c.132+7G>T rs534966818 0.00005
NM_005327.7(HADH):c.709+18G>A rs369931989 0.00005
NM_005327.7(HADH):c.324C>T (p.Ser108=) rs373153417 0.00004
NM_005327.7(HADH):c.384C>T (p.Asn128=) rs369550874 0.00004
NM_005327.7(HADH):c.710-14C>T rs185267497 0.00004
NM_005327.7(HADH):c.795C>T (p.Val265=) rs143416676 0.00004
NM_005327.7(HADH):c.820G>A (p.Val274Met) rs543440046 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_005327.7(HADH):c.908G>T (p.Gly303Val) rs575378007 0.00004
NM_005327.7(HADH):c.325G>A (p.Val109Ile) rs199810422 0.00003
NM_005327.7(HADH):c.47C>T (p.Ser16Phe) rs374248298 0.00003
NM_005327.7(HADH):c.486A>G (p.Arg162=) rs377521547 0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005327.7(HADH):c.714C>T (p.Asp238=) rs201739885 0.00003
NM_005327.7(HADH):c.889G>A (p.Val297Ile) rs376876153 0.00003
NM_005327.7(HADH):c.261+17G>A rs185657456 0.00002
NM_005327.7(HADH):c.34G>A (p.Val12Met) rs139920805 0.00002
NM_005327.7(HADH):c.479C>T (p.Thr160Ile) rs780252799 0.00002
NM_005327.7(HADH):c.757G>A (p.Gly253Ser) rs749276908 0.00002
NM_005327.7(HADH):c.817A>G (p.Ile273Val) rs1404810726 0.00002
NM_005327.7(HADH):c.827-9G>A rs1363052334 0.00002
NM_005327.7(HADH):c.863A>C (p.Gln288Pro) rs751120678 0.00002
NM_005327.7(HADH):c.126T>G (p.Ile42Met) rs1264862903 0.00001
NM_005327.7(HADH):c.159A>G (p.Val53=) rs148846625 0.00001
NM_005327.7(HADH):c.266G>A (p.Gly89Asp) rs1292646768 0.00001
NM_005327.7(HADH):c.280G>C (p.Glu94Gln) rs1274785101 0.00001
NM_005327.7(HADH):c.283A>G (p.Lys95Glu) rs536173298 0.00001
NM_005327.7(HADH):c.449C>T (p.Ser150Phe) rs1735809175 0.00001
NM_005327.7(HADH):c.494G>A (p.Arg165Gln) rs768880930 0.00001
NM_005327.7(HADH):c.579A>G (p.Thr193=) rs762771153 0.00001
NM_005327.7(HADH):c.696G>A (p.Arg232=) rs747476251 0.00001
NM_005327.7(HADH):c.707G>A (p.Arg236Gln) rs748945961 0.00001
NM_005327.7(HADH):c.72G>A (p.Lys24=) rs781319494 0.00001
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys) rs771071992 0.00001
NC_000004.11:g.(?_108816710)_(108955513_?)dup
NC_000004.11:g.(?_108911069)_(108955533_?)dup
NM_005327.7(HADH):c.100G>A (p.Gly34Ser) rs779135938
NM_005327.7(HADH):c.100G>C (p.Gly34Arg) rs779135938
NM_005327.7(HADH):c.106G>C (p.Gly36Arg) rs994692222
NM_005327.7(HADH):c.117C>G (p.Gly39=)
NM_005327.7(HADH):c.120C>T (p.Ala40=)
NM_005327.7(HADH):c.123C>T (p.Gly41=)
NM_005327.7(HADH):c.126T>C (p.Ile42=)
NM_005327.7(HADH):c.132+15C>A
NM_005327.7(HADH):c.132+16T>A
NM_005327.7(HADH):c.132+19A>G
NM_005327.7(HADH):c.133-19T>C
NM_005327.7(HADH):c.133-20T>G
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
NM_005327.7(HADH):c.141A>G (p.Ala47=)
NM_005327.7(HADH):c.144A>T (p.Ala48=) rs79881095
NM_005327.7(HADH):c.156A>G (p.Thr52=)
NM_005327.7(HADH):c.162G>A (p.Val54=)
NM_005327.7(HADH):c.163T>C (p.Leu55=)
NM_005327.7(HADH):c.180G>A (p.Glu60=)
NM_005327.7(HADH):c.18G>A (p.Arg6=)
NM_005327.7(HADH):c.203dup (p.Ile70fs)
NM_005327.7(HADH):c.220C>T (p.Leu74Phe) rs1735422340
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del) rs763318550
NM_005327.7(HADH):c.237G>A (p.Lys79=) rs150930917
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
NM_005327.7(HADH):c.246T>C (p.Phe82=)
NM_005327.7(HADH):c.249A>G (p.Ala83=)
NM_005327.7(HADH):c.261+10T>C
NM_005327.7(HADH):c.261+12T>C
NM_005327.7(HADH):c.261+15T>A
NM_005327.7(HADH):c.261+16C>A
NM_005327.7(HADH):c.261+16C>G
NM_005327.7(HADH):c.261+16C>T rs71601073
NM_005327.7(HADH):c.261+18A>T
NM_005327.7(HADH):c.261+19T>A
NM_005327.7(HADH):c.261+20G>A
NM_005327.7(HADH):c.261+2T>A
NM_005327.7(HADH):c.261+7T>A
NM_005327.7(HADH):c.261+8C>G
NM_005327.7(HADH):c.261+8C>T
NM_005327.7(HADH):c.262-19C>T rs2126229206
NM_005327.7(HADH):c.262-2A>G
NM_005327.7(HADH):c.262-5A>C
NM_005327.7(HADH):c.262-5A>G
NM_005327.7(HADH):c.262-6C>T
NM_005327.7(HADH):c.262-8T>C
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.267C>T (p.Gly89=)
NM_005327.7(HADH):c.291G>T (p.Leu97=) rs552317372
NM_005327.7(HADH):c.304_307dup (p.Ser103fs)
NM_005327.7(HADH):c.306C>G (p.Thr102=)
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
NM_005327.7(HADH):c.312G>A (p.Thr104=)
NM_005327.7(HADH):c.315T>C (p.Asp105=)
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
NM_005327.7(HADH):c.327T>C (p.Val109=)
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
NM_005327.7(HADH):c.336C>T (p.Ser112=)
NM_005327.7(HADH):c.351G>A (p.Val117=)
NM_005327.7(HADH):c.360C>T (p.Ile120=)
NM_005327.7(HADH):c.366G>A (p.Glu122=)
NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer)
NM_005327.7(HADH):c.380A>G (p.Lys127Arg) rs1735626197
NM_005327.7(HADH):c.381A>G (p.Lys127=)
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
NM_005327.7(HADH):c.390C>T (p.Leu130=)
NM_005327.7(HADH):c.39C>T (p.Ser13=)
NM_005327.7(HADH):c.419+12C>G
NM_005327.7(HADH):c.419+14G>A
NM_005327.7(HADH):c.419+16A>T
NM_005327.7(HADH):c.419+18A>G
NM_005327.7(HADH):c.419+19A>G
NM_005327.7(HADH):c.420-10C>T
NM_005327.7(HADH):c.420-17A>G
NM_005327.7(HADH):c.420-19C>T
NM_005327.7(HADH):c.420-4A>G
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
NM_005327.7(HADH):c.422A>G (p.His141Arg)
NM_005327.7(HADH):c.426A>G (p.Thr142=)
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
NM_005327.7(HADH):c.450C>T (p.Ser150=)
NM_005327.7(HADH):c.489A>G (p.Gln163=)
NM_005327.7(HADH):c.48C>T (p.Ser16=)
NM_005327.7(HADH):c.493C>T (p.Arg165Ter)
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
NM_005327.7(HADH):c.498C>T (p.Phe166=)
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
NM_005327.7(HADH):c.516del (p.Phe172fs)
NM_005327.7(HADH):c.525G>A (p.Val175=)
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
NM_005327.7(HADH):c.540T>C (p.Leu180=)
NM_005327.7(HADH):c.546+13C>T
NM_005327.7(HADH):c.546+15G>T
NM_005327.7(HADH):c.546+18dup rs2126232168
NM_005327.7(HADH):c.546+9G>A
NM_005327.7(HADH):c.547-10G>T
NM_005327.7(HADH):c.547-19C>A
NM_005327.7(HADH):c.54C>A (p.Ala18=)
NM_005327.7(HADH):c.567C>T (p.Thr189=)
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.594A>G (p.Val198=)
NM_005327.7(HADH):c.600T>C (p.Phe200=)
NM_005327.7(HADH):c.612A>G (p.Leu204=)
NM_005327.7(HADH):c.615A>G (p.Gly205=)
NM_005327.7(HADH):c.636+16G>A
NM_005327.7(HADH):c.636+16G>T
NM_005327.7(HADH):c.636+18T>C
NM_005327.7(HADH):c.636+20G>A
NM_005327.7(HADH):c.636+2T>C
NM_005327.7(HADH):c.636+7G>C
NM_005327.7(HADH):c.637-10C>T
NM_005327.7(HADH):c.637-18T>C
NM_005327.7(HADH):c.637-20T>C
NM_005327.7(HADH):c.637-7A>C
NM_005327.7(HADH):c.639C>T (p.Asp213=)
NM_005327.7(HADH):c.642T>C (p.Thr214=)
NM_005327.7(HADH):c.643C>T (p.Pro215Ser) rs140413151
NM_005327.7(HADH):c.64del (p.Ala22fs)
NM_005327.7(HADH):c.651T>C (p.Phe217=)
NM_005327.7(HADH):c.663C>T (p.Arg221=)
NM_005327.7(HADH):c.664_668del (p.Leu222fs)
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
NM_005327.7(HADH):c.709+17G>A
NM_005327.7(HADH):c.709+2T>C
NM_005327.7(HADH):c.709+8T>A rs2126237037
NM_005327.7(HADH):c.710-11T>A
NM_005327.7(HADH):c.710-11T>G
NM_005327.7(HADH):c.710-13G>A
NM_005327.7(HADH):c.710-14_710-11dup
NM_005327.7(HADH):c.710-15C>T
NM_005327.7(HADH):c.710-18C>T
NM_005327.7(HADH):c.710-19G>A
NM_005327.7(HADH):c.715G>T (p.Ala239Ser) rs746680125
NM_005327.7(HADH):c.725A>G (p.Glu242Gly) rs1736337186
NM_005327.7(HADH):c.740C>T (p.Ala247Val) rs1736337431
NM_005327.7(HADH):c.756C>G (p.Ala252=)
NM_005327.7(HADH):c.756C>T (p.Ala252=)
NM_005327.7(HADH):c.765C>G (p.Pro255=)
NM_005327.7(HADH):c.771C>T (p.Gly257=)
NM_005327.7(HADH):c.774A>G (p.Pro258=)
NM_005327.7(HADH):c.805A>G (p.Thr269Ala) rs1736341112
NM_005327.7(HADH):c.806C>G (p.Thr269Ser) rs754403207
NM_005327.7(HADH):c.810G>A (p.Thr270=)
NM_005327.7(HADH):c.819C>T (p.Ile273=)
NM_005327.7(HADH):c.825T>C (p.Asp275=)
NM_005327.7(HADH):c.826+13del
NM_005327.7(HADH):c.826+8T>C
NM_005327.7(HADH):c.827-18C>T
NM_005327.7(HADH):c.827-20C>G
NM_005327.7(HADH):c.827-20C>T
NM_005327.7(HADH):c.827-4A>C rs1381056065
NM_005327.7(HADH):c.828G>A (p.Gly276=)
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
NM_005327.7(HADH):c.846A>G (p.Ala282=)
NM_005327.7(HADH):c.873A>G (p.Pro291=)
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
NM_005327.7(HADH):c.87C>T (p.His29=)
NM_005327.7(HADH):c.897G>A (p.Glu299=)
NM_005327.7(HADH):c.8T>C (p.Phe3Ser) rs2126215379
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)
NM_005327.7(HADH):c.906C>T (p.Phe302=)
NM_005327.7(HADH):c.909C>T (p.Gly303=)
NM_005327.7(HADH):c.921A>T (p.Gly307=)
NM_005327.7(HADH):c.93G>A (p.Thr31=)
NM_005327.7(HADH):c.99C>T (p.Ile33=) rs74428123

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