ClinVar Miner

List of variants in gene NDUFAF3 studied for Mitochondrial complex I deficiency, nuclear type 1

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_199069.1(NDUFAF3):c.-241C>T rs573066357 0.00274
NM_199069.1(NDUFAF3):c.-126G>C rs75749590 0.00207
NM_199069.1(NDUFAF3):c.-127G>C rs74601553 0.00207
NM_199069.2(NDUFAF3):c.*98A>G rs117051791 0.00050
NM_199069.1(NDUFAF3):c.-363C>G rs760652685 0.00043
NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=) rs202104160 0.00037
NM_199069.2(NDUFAF3):c.271-10C>G rs200789117 0.00029
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg) rs544277179 0.00024
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys) rs200576852 0.00020
NM_199069.2(NDUFAF3):c.*169G>C rs886058669 0.00017
NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr) rs199504381 0.00012
NM_199069.1(NDUFAF3):c.-249C>T rs886058665 0.00009
NM_199069.2(NDUFAF3):c.*243G>A rs941353519 0.00004
NM_199069.2(NDUFAF3):c.338-12A>C rs774901107 0.00003
NM_199069.2(NDUFAF3):c.438+9C>T rs374825937 0.00002
NM_199069.2(NDUFAF3):c.258G>A (p.Val86=) rs759189660 0.00001
NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=) rs770941671 0.00001
NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg) rs886058668 0.00001
NM_199069.1(NDUFAF3):c.-143A>T rs2093162490
NM_199069.1(NDUFAF3):c.-369C>T rs886058664
NM_199069.1(NDUFAF3):c.-370A>G rs886058663
NM_199069.1(NDUFAF3):c.-489T>C rs886058662
NM_199069.1(NDUFAF3):c.-503G>A rs774579592
NM_199069.1(NDUFAF3):c.-503G>C rs774579592
NM_199069.2(NDUFAF3):c.*194G>C rs78116829
NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser) rs1378867079
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter) rs527841371

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