ClinVar Miner

List of variants in gene SURF1 reported as pathogenic for Mitochondrial disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)	rs782190413	0.00004
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)	rs121918657	0.00001

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