ClinVar Miner

List of variants in gene NDUFAF4 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_014165.4(NDUFAF4):c.*1008T>C rs886061827
NM_014165.4(NDUFAF4):c.*1053A>G rs74905648
NM_014165.4(NDUFAF4):c.*1062T>G rs76370016
NM_014165.4(NDUFAF4):c.*1121A>G rs886061826
NM_014165.4(NDUFAF4):c.*1154A>G rs886061825
NM_014165.4(NDUFAF4):c.*1203A>G rs190331411
NM_014165.4(NDUFAF4):c.*1362C>T rs545168471
NM_014165.4(NDUFAF4):c.*1363G>A rs184678986
NM_014165.4(NDUFAF4):c.*1375G>T rs138003168
NM_014165.4(NDUFAF4):c.*1443G>A rs7758762
NM_014165.4(NDUFAF4):c.*1447T>C rs116939090
NM_014165.4(NDUFAF4):c.*1481T>C rs772264922
NM_014165.4(NDUFAF4):c.*1487A>G rs748437516
NM_014165.4(NDUFAF4):c.*1642T>G rs150444958
NM_014165.4(NDUFAF4):c.*1671T>C rs182040819
NM_014165.4(NDUFAF4):c.*1727T>C rs886061824
NM_014165.4(NDUFAF4):c.*1748T>C rs886061823
NM_014165.4(NDUFAF4):c.*289C>G rs143895125
NM_014165.4(NDUFAF4):c.*294T>G rs555318888
NM_014165.4(NDUFAF4):c.*301T>A rs1854268
NM_014165.4(NDUFAF4):c.*323A>T rs9487453
NM_014165.4(NDUFAF4):c.*332A>T rs10499008
NM_014165.4(NDUFAF4):c.*350A>C rs41288598
NM_014165.4(NDUFAF4):c.*382T>A rs1971475
NM_014165.4(NDUFAF4):c.*387C>T rs41288596
NM_014165.4(NDUFAF4):c.*459A>G rs560563894
NM_014165.4(NDUFAF4):c.*612A>G rs886061828
NM_014165.4(NDUFAF4):c.*690G>A rs181915821
NM_014165.4(NDUFAF4):c.*986A>C rs192839240
NM_014165.4(NDUFAF4):c.-24C>G rs886061830
NM_014165.4(NDUFAF4):c.-32del rs886061831
NM_014165.4(NDUFAF4):c.-33G>T rs886061832
NM_014165.4(NDUFAF4):c.-40C>T rs749427985
NM_014165.4(NDUFAF4):c.-49C>T rs372635399
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) rs78567928
NM_014165.4(NDUFAF4):c.194T>C (p.Leu65Pro) rs63751061
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) rs886061829
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378

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