Variants with conflicting interpretations "pathogenic" from Department of Pediatrics, Gifu University and "likely pathogenic" from Fulgent Genetics, Fulgent Genetics

Minimum review status of the submission from Department of Pediatrics, Gifu University:		Collection method of the submission from Department of Pediatrics, Gifu University:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 5

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)	rs747714452	0.00003
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	rs373771053	0.00002
NM_000019.4(ACAT1):c.826+1G>T	rs727503796	0.00001
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs)	rs1591363800
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)	rs749873354

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