List of variants in gene combination ACAD9, CFAP92 reported as pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)	rs377022708	0.00001
NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs)	rs755346624	0.00001
NM_014049.5(ACAD9):c.1765+2T>A	rs2529287811	0.00001
NM_014049.5(ACAD9):c.1825C>T (p.Arg609Ter)	rs778786636	0.00001
NM_014049.5(ACAD9):c.1564-6_1569del	rs863225059
NM_014049.5(ACAD9):c.1661del (p.Ile554fs)	rs1559832410
NM_014049.5(ACAD9):c.1747_1756del (p.Leu583fs)	rs2529287706
NM_014049.5(ACAD9):c.1750_1753del (p.Gln585fs)	rs1559834691
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs)	rs917547961
NM_014049.5(ACAD9):c.1806_1816dup (p.Leu606fs)	rs2529107343
NM_014049.5(ACAD9):c.1807_1808insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGTGTCCC (p.Gln603fs)	rs2529107216
NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser)	rs863224845

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