List of variants reported as likely pathogenic for combined oxidative phosphorylation deficiency by Baylor Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 132

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HGVS	dbSNP	gnomAD frequency
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	rs201754030	0.00136
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)	rs146571352	0.00109
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)	rs115047866	0.00067
NM_024996.7(GFM1):c.689+908G>A	rs751069628	0.00011
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)	rs374698153	0.00008
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)	rs200105202	0.00007
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)	rs151166046	0.00006
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter)	rs771890880	0.00005
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)	rs587777688	0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)	rs775623164	0.00004
NM_024996.7(GFM1):c.997_998+2del	rs763084523	0.00004
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs)	rs753352064	0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	rs119470018	0.00002
NM_005726.6(TSFM):c.403C>T (p.Gln135Ter)	rs751169823	0.00001
NM_005726.6(TSFM):c.557T>A (p.Leu186Ter)	rs373811833	0.00001
NM_005726.6(TSFM):c.571+1G>C	rs750371292	0.00001
NM_005726.6(TSFM):c.601C>T (p.Arg201Ter)	rs768320625	0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs)	rs1491203033	0.00001
NM_020745.4(AARS2):c.2146-2A>G	rs368934219	0.00001
NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter)	rs775919783	0.00001
NM_024996.7(GFM1):c.1596del (p.Val533fs)	rs761095873	0.00001
NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter)	rs889180452	0.00001
NM_024996.7(GFM1):c.1910-1G>A	rs1462851267	0.00001
NM_024996.7(GFM1):c.1910-2A>T	rs867885977	0.00001
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter)	rs1402362655	0.00001
NM_024996.7(GFM1):c.401_404dup (p.Arg136fs)	rs1174797887	0.00001
NM_024996.7(GFM1):c.424del (p.Val142fs)	rs886058120	0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)	rs774456344	0.00001
NM_024996.7(GFM1):c.689+1G>A	rs1449057162	0.00001
NM_024996.7(GFM1):c.69G>A (p.Trp23Ter)	rs763344414	0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)	rs863224032	0.00001
NM_024996.7(GFM1):c.81+1G>A	rs1262218849	0.00001
NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter)	rs756173225	0.00001
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)	rs724160021
NM_005035.4(POLRMT):c.2041C>T (p.Gln681Ter)
NM_005035.4(POLRMT):c.954-1G>C
NM_005726.6(TSFM):c.115dup (p.Arg39fs)
NM_005726.6(TSFM):c.139A>T (p.Lys47Ter)
NM_005726.6(TSFM):c.177_187del (p.Tyr59_Asn63delinsTer)
NM_005726.6(TSFM):c.17C>A (p.Ser6Ter)	rs372337739
NM_005726.6(TSFM):c.223del (p.Leu75fs)
NM_005726.6(TSFM):c.231+1G>A
NM_005726.6(TSFM):c.250A>T (p.Lys84Ter)
NM_005726.6(TSFM):c.259C>T (p.Gln87Ter)
NM_005726.6(TSFM):c.27_28del (p.Phe10fs)	rs2140412540
NM_005726.6(TSFM):c.382del (p.Val128fs)
NM_005726.6(TSFM):c.399del (p.Lys133fs)	rs1955600413
NM_005726.6(TSFM):c.484-1G>A
NM_005726.6(TSFM):c.484G>A (p.Gly162Ser)
NM_005726.6(TSFM):c.545_548del (p.Leu182fs)
NM_005726.6(TSFM):c.559_560delinsA (p.Ala187fs)
NM_005726.6(TSFM):c.57+1G>A	rs1403882425
NM_005726.6(TSFM):c.58-2A>G
NM_005726.6(TSFM):c.5C>A (p.Ser2Ter)
NM_005726.6(TSFM):c.600dup (p.Arg201fs)
NM_005726.6(TSFM):c.611G>A (p.Trp204Ter)
NM_005726.6(TSFM):c.628_629insCATG (p.Gly210fs)
NM_005726.6(TSFM):c.719G>C (p.Cys240Ser)
NM_005726.6(TSFM):c.74del (p.Arg25fs)
NM_005726.6(TSFM):c.76C>T (p.Gln26Ter)	rs774870834
NM_005726.6(TSFM):c.796dup (p.Leu266fs)
NM_005726.6(TSFM):c.797delinsGG (p.Leu266fs)
NM_005726.6(TSFM):c.808_809del (p.Ser270fs)
NM_005726.6(TSFM):c.85C>T (p.Gln29Ter)	rs2140413092
NM_018127.7(ELAC2):c.1908+1G>A	rs1014558424
NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs)	rs1794789052
NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs)
NM_024996.7(GFM1):c.1083+1G>C
NM_024996.7(GFM1):c.113_116dup (p.Val40fs)
NM_024996.7(GFM1):c.114_115del (p.Val40fs)
NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)
NM_024996.7(GFM1):c.1157dup (p.Asn386fs)
NM_024996.7(GFM1):c.1172del (p.Lys391fs)	rs1263604546
NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter)	rs1332636394
NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro)
NM_024996.7(GFM1):c.1303dup (p.Ala435fs)
NM_024996.7(GFM1):c.136del (p.Ile46fs)
NM_024996.7(GFM1):c.1380+2T>G
NM_024996.7(GFM1):c.1381-1G>C
NM_024996.7(GFM1):c.1424del (p.Arg475fs)	rs1723572750
NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs)	rs768112611
NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter)
NM_024996.7(GFM1):c.154_155del (p.Ala53fs)
NM_024996.7(GFM1):c.1601+1G>A	rs748116978
NM_024996.7(GFM1):c.1632dup (p.Gly545fs)
NM_024996.7(GFM1):c.1642C>T (p.Gln548Ter)	rs1214047183
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter)	rs752037355
NM_024996.7(GFM1):c.1765-2A>G	rs2108102423
NM_024996.7(GFM1):c.1799del (p.Ser600fs)
NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs)
NM_024996.7(GFM1):c.1909+2T>A
NM_024996.7(GFM1):c.1951del (p.Ala651fs)
NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)
NM_024996.7(GFM1):c.2070+1G>A
NM_024996.7(GFM1):c.2097T>G (p.Tyr699Ter)
NM_024996.7(GFM1):c.2125-1G>A
NM_024996.7(GFM1):c.247_248del (p.Asp83fs)	rs1721780124
NM_024996.7(GFM1):c.287_288del (p.Arg96fs)
NM_024996.7(GFM1):c.291_292del (p.Gly99fs)	rs752400894
NM_024996.7(GFM1):c.303dup (p.Ile102fs)
NM_024996.7(GFM1):c.323dup (p.Tyr108Ter)
NM_024996.7(GFM1):c.324C>A (p.Tyr108Ter)	rs1391874523
NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter)
NM_024996.7(GFM1):c.361dup (p.Thr121fs)
NM_024996.7(GFM1):c.362_367delinsTT (p.Thr121fs)
NM_024996.7(GFM1):c.367+1G>A
NM_024996.7(GFM1):c.368-2A>C
NM_024996.7(GFM1):c.368-2A>G
NM_024996.7(GFM1):c.381del (p.Phe127fs)
NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter)	rs1721865059
NM_024996.7(GFM1):c.548del (p.Pro183fs)
NM_024996.7(GFM1):c.54del (p.Ala19fs)	rs765266988
NM_024996.7(GFM1):c.573-1G>C	rs2108009356
NM_024996.7(GFM1):c.573-2A>G
NM_024996.7(GFM1):c.579dup (p.Leu194fs)
NM_024996.7(GFM1):c.626del (p.Gly209fs)
NM_024996.7(GFM1):c.636del (p.Gly213fs)
NM_024996.7(GFM1):c.689+2T>C
NM_024996.7(GFM1):c.690_693del	rs778902849
NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter)
NM_024996.7(GFM1):c.725T>G (p.Leu242Ter)
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)
NM_024996.7(GFM1):c.829dup (p.Ser277fs)	rs771865940
NM_024996.7(GFM1):c.89_99del (p.Trp30fs)	rs763423294
NM_024996.7(GFM1):c.909del (p.Asn303fs)
NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)
NM_024996.7(GFM1):c.974del (p.Asn325fs)
NM_024996.7(GFM1):c.999-1G>A	rs757524798
NM_024996.7(GFM1):c.999-1G>C
NM_033109.5(PNPT1):c.1906+1G>A	rs1695931094

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