ClinVar Miner

List of variants in gene HADHA reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_000182.5(HADHA):c.109+20A>G rs7569108 0.01898
NM_000182.5(HADHA):c.573+8dup rs112196218 0.00584
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000182.5(HADHA):c.764A>G (p.Lys255Arg) rs754673524 0.00005
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000182.5(HADHA):c.676+2T>C rs772683361 0.00002
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu) rs143919136 0.00002
NM_000182.5(HADHA):c.67+17G>C rs574255291 0.00001
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774 0.00001
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) rs796051970 0.00001
NM_000182.5(HADHA):c.-17G>A rs1553316732
NM_000182.5(HADHA):c.1059del (p.Lys353fs) rs1227493628
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775

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