List of variants in gene HADHA studied for Mitochondrial trifunctional protein deficiency 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)	rs71441018	0.00050
NM_000182.5(HADHA):c.180+3A>G	rs781222705	0.00005
NM_000182.5(HADHA):c.180+1G>A	rs786205088
NM_000182.5(HADHA):c.453G>A (p.Glu151=)
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)	rs786204607
NM_000182.5(HADHA):c.845T>A (p.Val282Asp)	rs137852773
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)	rs137852775
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)	rs137852774

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