ClinVar Miner

List of variants reported as benign for Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency by Natera, Inc.

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
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.573+8dup rs112196218 0.00584
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00412
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00403
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp) rs61731155 0.00349
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811 0.00007
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938 0.00006

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