ClinVar Miner

List of variants in gene NDUFAF2 studied for Leigh syndrome

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573 0.01828
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) rs191388646 0.00585
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480 0.00369
NM_174889.4(NDUFAF2):c.-63G>T rs886060724 0.00011
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) rs775605330 0.00007
NM_174889.4(NDUFAF2):c.-66G>C rs376045901 0.00006
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) rs769579395 0.00005
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863 0.00004
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=) rs550008432 0.00004
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045 0.00003
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218 0.00003
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068 0.00002
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His) rs773988847 0.00001
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter) rs772294726 0.00001
NC_000005.9:g.(60241210_60368951)_(60448865_?)del
NC_000005.9:g.(?_60240955)_(60241210_60368951)del
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.5(NDUFAF2):c.-23GC[3] rs886060725
NM_174889.5(NDUFAF2):c.128-14C>G rs537327206
NM_174889.5(NDUFAF2):c.130_131del (p.Gln44fs) rs1752321639
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val) rs1752321893
NM_174889.5(NDUFAF2):c.9_10del (p.Trp3fs)

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