ClinVar Miner

List of variants in gene NDUFAF5 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_024120.5(NDUFAF5):c.479+79C>T rs7268735 0.03150
NM_024120.5(NDUFAF5):c.520-160_520-157del rs151304952 0.01524
NM_024120.5(NDUFAF5):c.376-68C>T rs76891226 0.01279
NM_024120.5(NDUFAF5):c.222+127C>T rs58692775 0.00585
NM_024120.5(NDUFAF5):c.327+215A>G rs144381878 0.00467
NM_024120.5(NDUFAF5):c.*110A>C rs117751358 0.00391
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) rs146052819 0.00098
NM_024120.5(NDUFAF5):c.216G>A (p.Lys72=) rs377716355 0.00067
NM_024120.5(NDUFAF5):c.834A>G (p.Thr278=) rs768138840 0.00020
NM_024120.5(NDUFAF5):c.223-20C>A rs538620293 0.00019
NM_024120.5(NDUFAF5):c.375+16A>G rs183892859 0.00015
NM_024120.5(NDUFAF5):c.612G>A (p.Ala204=) rs147579272 0.00012
NM_024120.5(NDUFAF5):c.618G>A (p.Thr206=) rs191895671 0.00011
NM_024120.5(NDUFAF5):c.597T>C (p.Cys199=) rs372913975 0.00009
NM_024120.5(NDUFAF5):c.863-16A>G rs763764350 0.00009
NM_024120.5(NDUFAF5):c.520-11A>G rs193289189 0.00005
NM_024120.5(NDUFAF5):c.*7A>C rs749039506 0.00001
NM_024120.5(NDUFAF5):c.207C>T (p.Asp69=) rs546777749 0.00001
NM_024120.5(NDUFAF5):c.862+15C>T rs757382811 0.00001
NM_024120.5(NDUFAF5):c.223-246TG[8] rs71188187
NM_024120.5(NDUFAF5):c.264-3dup rs751750631
NM_024120.5(NDUFAF5):c.375+294G>C rs80082676
NM_024120.5(NDUFAF5):c.718-87G>A rs117563869
NM_024120.5(NDUFAF5):c.862+14A>G rs764417651
NM_024120.5(NDUFAF5):c.882T>C (p.Asp294=) rs1057522966
NM_024120.5(NDUFAF5):c.945+17G>C rs1555838998

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