ClinVar Miner

List of variants in gene NDUFA11 studied for mitochondrial complex deficiency

Included ClinVar conditions (92):
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001193375.3(NDUFA11):c.661A>G (p.Thr221Ala) rs1678868 0.41511
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745 0.00042
NM_175614.5(NDUFA11):c.*59C>G rs191571307 0.00033
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) rs138889960 0.00029
NM_175614.5(NDUFA11):c.313+6T>C rs565009355 0.00009
NM_001193375.3(NDUFA11):c.494C>T (p.Ala165Val) rs765004425 0.00007
NM_175614.4(NDUFA11):c.-282T>C rs779432735 0.00006
NM_175614.5(NDUFA11):c.*63G>A rs749166288 0.00006
NM_175614.5(NDUFA11):c.205G>A (p.Val69Met) rs774174896 0.00006
NM_175614.4(NDUFA11):c.-300G>A rs563822139 0.00004
NM_175614.5(NDUFA11):c.288C>T (p.Ala96=) rs941748424 0.00002
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=) rs536499962 0.00001
NM_175614.5(NDUFA11):c.362C>T (p.Ala121Val) rs989204591 0.00001
NM_001193375.3(NDUFA11):c.470_471del (p.Ser157fs)
NM_001193375.3(NDUFA11):c.559C>T (p.Arg187Trp)
NM_001193375.3(NDUFA11):c.590_600del (p.His197fs)
NM_175614.4(NDUFA11):c.*69_*70delGT rs755637853
NM_175614.5(NDUFA11):c.*55G>C rs771648754
NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser) rs2057614252
NM_175614.5(NDUFA11):c.191-31G>A
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val) rs886054647
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=) rs1345378776

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