ClinVar Miner

List of variants reported as benign for Deficiency of 3-hydroxyacyl-CoA dehydrogenase

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Total variants: 15
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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.-38T>C rs17550794 0.13904
NM_005327.7(HADH):c.257= (p.Leu86=) rs4956145 0.13339
NM_005327.7(HADH):c.*109T>A rs221347 0.07950
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_005327.4(HADH):c.-71C>T rs760202 0.02185
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_005327.7(HADH):c.261+16C>T rs71601073

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