ClinVar Miner

List of variants in gene NDUFAF1 reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_016013.4(NDUFAF1):c.-137C>T rs369431865
NM_016013.4(NDUFAF1):c.-140C>T rs886051144
NM_016013.4(NDUFAF1):c.-180C>T rs886051145
NM_016013.4(NDUFAF1):c.-205G>C rs190265352
NM_016013.4(NDUFAF1):c.-293C>T rs760649120
NM_016013.4(NDUFAF1):c.-312T>G rs886051146
NM_016013.4(NDUFAF1):c.-352C>T rs532681188
NM_016013.4(NDUFAF1):c.-379C>T rs146883891
NM_016013.4(NDUFAF1):c.-6T>G rs180730324
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala) rs151286131
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly) rs886051143
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) rs372385045
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser) rs148982578
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn) rs866015009
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) rs759274620

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