List of variants in gene combination LONP2, SIAH1 reported as likely pathogenic for Buratti-Harel syndrome

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_003031.4(SIAH1):c.15_16insA (p.Ala6fs)
NM_003031.4(SIAH1):c.361dup (p.Cys121fs)	rs2544514083
NM_003031.4(SIAH1):c.484G>A (p.Asp162Asn)	rs2151043928

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