ClinVar Miner

List of variants reported as uncertain significance for Combined oxidative phosphorylation deficiency 44 by Fulgent Genetics, Fulgent Genetics

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001136193.2(FASTKD2):c.1993A>G (p.Met665Val) rs373432793 0.00015
NM_001136193.2(FASTKD2):c.872C>T (p.Thr291Met) rs138500508 0.00014
NM_001136193.2(FASTKD2):c.889G>A (p.Val297Ile) rs373041286 0.00014
NM_001136193.2(FASTKD2):c.298G>T (p.Ala100Ser) rs773754189 0.00007
NM_001136193.2(FASTKD2):c.1219G>A (p.Val407Met) rs375608544 0.00006
NM_001136193.2(FASTKD2):c.1403A>G (p.His468Arg) rs772042470 0.00006
NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu) rs150016888 0.00006
NM_001136193.2(FASTKD2):c.356C>T (p.Ser119Phe) rs149250098 0.00006
NM_001136193.2(FASTKD2):c.1979G>A (p.Arg660Gln) rs780581465 0.00004
NM_001136193.2(FASTKD2):c.2071A>C (p.Thr691Pro) rs781656176 0.00004
NM_001136193.2(FASTKD2):c.601C>T (p.Arg201Cys) rs750930063 0.00004
NM_001136193.2(FASTKD2):c.1978C>T (p.Arg660Trp) rs186489901 0.00003
NM_001136193.2(FASTKD2):c.2074A>G (p.Lys692Glu) rs771134176 0.00003
NM_001136193.2(FASTKD2):c.1063A>G (p.Met355Val) rs766550165 0.00002
NM_001136193.2(FASTKD2):c.62C>T (p.Ala21Val) rs549677418 0.00002
NM_001136193.2(FASTKD2):c.683A>C (p.Gln228Pro) rs202102918 0.00002
NM_001136193.2(FASTKD2):c.712G>A (p.Ala238Thr) rs368819721 0.00002
NM_001136193.2(FASTKD2):c.1870G>T (p.Asp624Tyr) rs1204974208 0.00001
NM_001136193.2(FASTKD2):c.225A>G (p.Arg75=) rs374830420 0.00001
NM_001136193.2(FASTKD2):c.319C>G (p.Leu107Val) rs760522658 0.00001
NM_001136193.2(FASTKD2):c.782G>A (p.Arg261His) rs918461594 0.00001
NM_001136193.2(FASTKD2):c.-15A>G rs886055505

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