List of variants in gene NDUFAF5 reported as likely 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_024120.5(NDUFAF5):c.519+4A>G	rs373951216	0.00006
NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val)	rs200756131	0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)	rs761389904	0.00002
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)	rs368690277	0.00001
NM_024120.5(NDUFAF5):c.519+2T>C
NM_024120.5(NDUFAF5):c.519+2T>G	rs2147534220
NM_024120.5(NDUFAF5):c.712_715del (p.Thr238fs)

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