List of variants in gene NDUFAF5 reported as likely pathogenic for not provided

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)	rs150613320	0.00028
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro)	rs118203929	0.00002
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)	rs368690277	0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)	rs757043077	0.00001
NC_000020.10:g.(?_13780796)_(13782242_?)del
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs)	rs778575439
NM_024120.5(NDUFAF5):c.223-1G>T
NM_024120.5(NDUFAF5):c.263+1G>A
NM_024120.5(NDUFAF5):c.263+1G>C
NM_024120.5(NDUFAF5):c.263+2T>C
NM_024120.5(NDUFAF5):c.289G>A (p.Gly97Ser)	rs746405080
NM_024120.5(NDUFAF5):c.327+2T>C
NM_024120.5(NDUFAF5):c.328-1G>A
NM_024120.5(NDUFAF5):c.328-2A>G
NM_024120.5(NDUFAF5):c.375+1G>A
NM_024120.5(NDUFAF5):c.479+1G>C
NM_024120.5(NDUFAF5):c.519+1G>A
NM_024120.5(NDUFAF5):c.519+2T>C
NM_024120.5(NDUFAF5):c.519+2T>G	rs2147534220
NM_024120.5(NDUFAF5):c.583dup (p.Tyr195fs)	rs1555834773
NM_024120.5(NDUFAF5):c.717+1G>C
NM_024120.5(NDUFAF5):c.718-1G>A	rs1359810808
NM_024120.5(NDUFAF5):c.778+1G>A
NM_024120.5(NDUFAF5):c.782T>G (p.Met261Arg)
NM_024120.5(NDUFAF5):c.862+1G>C

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