ClinVar Miner

List of variants in gene NDUFAF5 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_024120.4(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138
NM_024120.4(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077
NM_024120.4(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904

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