ClinVar Miner

List of variants reported as benign for Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.1621-26G>T rs1865324 0.82320
NM_000182.5(HADHA):c.1393-62A>C rs13387855 0.82311
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_000182.5(HADHA):c.573+32T>C rs7593175 0.60341
NM_000182.5(HADHA):c.573+26G>C rs35746418 0.17547
NM_000182.5(HADHA):c.67+51G>T rs62128457 0.17544
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.17163
NM_000182.5(HADHA):c.180+69G>C rs2303892 0.17014
NM_000182.5(HADHA):c.68-82T>A rs12987980 0.16953
NM_000182.5(HADHA):c.315-44A>C rs3892649 0.16834
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_000182.5(HADHA):c.573+8dup rs112196218 0.00584
NM_000182.5(HADHA):c.*561C>T rs115151034 0.00505
NM_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00383
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00372
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp) rs61731155 0.00349
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938 0.00009
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811 0.00007
NM_000182.5(HADHA):c.*202G>A rs7260

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