ClinVar Miner

List of variants in gene NDUFAF3 studied for Mitochondrial complex I deficiency

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Total variants: 18
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HGVS dbSNP
NM_199069.2(NDUFAF3):c.*169G>C rs886058669
NM_199069.2(NDUFAF3):c.*194G>C rs78116829
NM_199069.2(NDUFAF3):c.180_181insT (p.Asp61Ter) rs752864722
NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=) rs770941671
NM_199069.2(NDUFAF3):c.338-12A>C rs774901107
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg) rs544277179
NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val) rs886058667
NM_199069.2(NDUFAF3):c.438+9C>T rs374825937
NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg) rs886058668
NM_199074.1(NDUFAF3):c.-94-319G>A rs886058666
NM_199074.1(NDUFAF3):c.-94-327G>C rs75749590
NM_199074.1(NDUFAF3):c.-94-328G>C rs74601553
NM_199074.1(NDUFAF3):c.-94-442C>T rs573066357
NM_199074.1(NDUFAF3):c.-94-450C>T rs886058665
NM_199074.1(NDUFAF3):c.-94-564C>G rs760652685
NM_199074.1(NDUFAF3):c.-94-570C>T rs886058664
NM_199074.1(NDUFAF3):c.-94-571A>G rs886058663
NM_199074.1(NDUFAF3):c.-94-690T>C rs886058662

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