List of variants in gene combination LOC130002899, SURF1 reported as pathogenic for Leigh syndrome

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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_003172.4(SURF1):c.74G>A (p.Trp25Ter)	rs1187982748	0.00001
NM_003172.4(SURF1):c.58_59dup (p.Ala21fs)	rs2119088472
NM_003172.4(SURF1):c.65del (p.Ser22fs)

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