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: 84
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HGVS dbSNP gnomAD frequency
NM_001136193.2(FASTKD2):c.356C>T (p.Ser119Phe) rs149250098 0.00018
NM_001136193.2(FASTKD2):c.1993A>G (p.Met665Val) rs373432793 0.00015
NM_001136193.2(FASTKD2):c.1193A>T (p.Asp398Val) rs140778319 0.00014
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.602G>A (p.Arg201His) rs150994958 0.00008
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.1295G>A (p.Arg432Gln) rs372022584 0.00004
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.527C>T (p.Ala176Val) rs367909050 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
NM_001136193.2(FASTKD2):c.1030A>G (p.Asn344Asp)
NM_001136193.2(FASTKD2):c.1036C>A (p.Gln346Lys)
NM_001136193.2(FASTKD2):c.1042A>G (p.Met348Val)
NM_001136193.2(FASTKD2):c.1049A>T (p.Glu350Val)
NM_001136193.2(FASTKD2):c.1082T>A (p.Ile361Lys)
NM_001136193.2(FASTKD2):c.1091A>G (p.Asp364Gly)
NM_001136193.2(FASTKD2):c.1099A>G (p.Ser367Gly)
NM_001136193.2(FASTKD2):c.1178A>G (p.Gln393Arg)
NM_001136193.2(FASTKD2):c.125G>A (p.Arg42Lys)
NM_001136193.2(FASTKD2):c.1285C>T (p.Leu429Phe)
NM_001136193.2(FASTKD2):c.1433T>C (p.Phe478Ser)
NM_001136193.2(FASTKD2):c.1447G>A (p.Ala483Thr)
NM_001136193.2(FASTKD2):c.1510T>C (p.Ser504Pro)
NM_001136193.2(FASTKD2):c.151C>T (p.Pro51Ser)
NM_001136193.2(FASTKD2):c.1535C>T (p.Pro512Leu)
NM_001136193.2(FASTKD2):c.1577G>A (p.Ser526Asn)
NM_001136193.2(FASTKD2):c.1587G>C (p.Leu529=)
NM_001136193.2(FASTKD2):c.1606A>C (p.Asn536His)
NM_001136193.2(FASTKD2):c.160G>T (p.Val54Phe)
NM_001136193.2(FASTKD2):c.1612T>C (p.Tyr538His)
NM_001136193.2(FASTKD2):c.1628T>C (p.Leu543Ser)
NM_001136193.2(FASTKD2):c.1630G>C (p.Asp544His)
NM_001136193.2(FASTKD2):c.1648GAT[1] (p.Asp551del)
NM_001136193.2(FASTKD2):c.1651G>A (p.Asp551Asn)
NM_001136193.2(FASTKD2):c.1700G>A (p.Arg567Gln)
NM_001136193.2(FASTKD2):c.1718A>G (p.His573Arg)
NM_001136193.2(FASTKD2):c.1769G>A (p.Gly590Glu)
NM_001136193.2(FASTKD2):c.1790A>G (p.His597Arg)
NM_001136193.2(FASTKD2):c.1814-15A>G
NM_001136193.2(FASTKD2):c.1847_1855del (p.Gln616_Leu618del)
NM_001136193.2(FASTKD2):c.187A>T (p.Asn63Tyr)
NM_001136193.2(FASTKD2):c.1912T>C (p.Cys638Arg)
NM_001136193.2(FASTKD2):c.1954A>G (p.Arg652Gly)
NM_001136193.2(FASTKD2):c.1975A>C (p.Met659Leu)
NM_001136193.2(FASTKD2):c.1A>T (p.Met1Leu)
NM_001136193.2(FASTKD2):c.2012T>G (p.Leu671Trp)
NM_001136193.2(FASTKD2):c.2086G>C (p.Val696Leu)
NM_001136193.2(FASTKD2):c.215A>G (p.Asp72Gly)
NM_001136193.2(FASTKD2):c.263T>C (p.Val88Ala)
NM_001136193.2(FASTKD2):c.292C>G (p.Leu98Val)
NM_001136193.2(FASTKD2):c.304A>G (p.Arg102Gly)
NM_001136193.2(FASTKD2):c.308T>C (p.Ile103Thr)
NM_001136193.2(FASTKD2):c.377C>A (p.Ser126Tyr)
NM_001136193.2(FASTKD2):c.43A>G (p.Ser15Gly)
NM_001136193.2(FASTKD2):c.523A>G (p.Lys175Glu)
NM_001136193.2(FASTKD2):c.56A>G (p.Asn19Ser)
NM_001136193.2(FASTKD2):c.578A>G (p.Lys193Arg)
NM_001136193.2(FASTKD2):c.625A>C (p.Ser209Arg)
NM_001136193.2(FASTKD2):c.628C>T (p.His210Tyr)
NM_001136193.2(FASTKD2):c.659T>G (p.Met220Arg)
NM_001136193.2(FASTKD2):c.718G>A (p.Val240Met)
NM_001136193.2(FASTKD2):c.743C>A (p.Thr248Asn)
NM_001136193.2(FASTKD2):c.788A>G (p.Asn263Ser)
NM_001136193.2(FASTKD2):c.808C>G (p.Leu270Val)
NM_001136193.2(FASTKD2):c.832G>A (p.Glu278Lys) rs886055506
NM_001136193.2(FASTKD2):c.840G>A (p.Met280Ile)
NM_001136193.2(FASTKD2):c.881G>A (p.Arg294Lys)
NM_001136193.2(FASTKD2):c.937G>T (p.Val313Leu)
NM_001136193.2(FASTKD2):c.99A>G (p.Thr33=)

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