ClinVar Miner

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

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) rs778575439
NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu) rs1600305570
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896
NM_024120.5(NDUFAF5):c.222+9_222+10insGCGGGGCGGCGGGGCG rs1600306218
NM_024120.5(NDUFAF5):c.477A>C (p.Leu159Phe) rs267606689
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) rs118203929
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904

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