ClinVar Miner

List of variants studied for Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

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ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_006576.4(AVIL):c.1963-316C>T rs10783847 0.29936
NM_006576.4(AVIL):c.1963-397C>T rs10783848 0.29848
NM_005726.6(TSFM):c.30T>C (p.Phe10=) rs10747783 0.26055
NM_005726.6(TSFM):c.754G>A (p.Val252Ile) rs114694283 0.01391
NM_006576.4(AVIL):c.*341G>C rs57561819 0.00812
NM_006576.4(AVIL):c.*302C>G rs114214463 0.00703
NM_005726.6(TSFM):c.796C>A (p.Leu266Ile) rs62000432 0.00702
NM_005726.6(TSFM):c.5C>T (p.Ser2Leu) rs35957924 0.00698
NM_005726.6(TSFM):c.232-19T>G rs112348190 0.00291
NM_005726.6(TSFM):c.24C>T (p.Arg8=) rs138461986 0.00209
NM_005726.6(TSFM):c.*291T>C rs191666277 0.00192
NM_005726.6(TSFM):c.797T>A (p.Leu266His) rs146777264 0.00160
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_005726.6(TSFM):c.*210G>A rs112956536 0.00103
NM_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys) rs200132571 0.00060
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_005726.6(TSFM):c.688G>T (p.Val230Leu) rs151248026 0.00041
NM_005726.6(TSFM):c.814G>C (p.Asp272His) rs138911653 0.00030
NM_005726.6(TSFM):c.726G>A (p.Thr242=) rs140461538 0.00019
NM_005726.6(TSFM):c.*381C>T rs528226687 0.00016
NM_005726.6(TSFM):c.361-12T>G rs368313488 0.00016
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe) rs376562033 0.00011
NM_005726.6(TSFM):c.*412C>T rs184926061 0.00010
NM_005726.6(TSFM):c.*262T>A rs758314098 0.00008
NM_005726.6(TSFM):c.*176T>C rs765248918 0.00006
NM_005726.6(TSFM):c.140A>G (p.Lys47Arg) rs373659284 0.00006
NM_005726.6(TSFM):c.269G>A (p.Gly90Asp) rs371076990 0.00004
NM_005726.6(TSFM):c.885C>T (p.Thr295=) rs750718644 0.00004
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp) rs121909485 0.00004
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr) rs587777688 0.00004
NM_005726.6(TSFM):c.*182T>G rs188261377 0.00003
NM_005726.6(TSFM):c.10C>T (p.Leu4=) rs765871977 0.00003
NM_005726.6(TSFM):c.161G>A (p.Arg54Gln) rs202213736 0.00003
NM_005726.6(TSFM):c.787A>T (p.Met263Leu) rs764183902 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
NM_005726.6(TSFM):c.*656A>G rs985828528 0.00002
NM_005726.6(TSFM):c.322G>A (p.Gly108Arg) rs374679403 0.00002
NM_006576.4(AVIL):c.*404T>C rs58949411 0.00002
NM_005726.6(TSFM):c.*461T>C rs886049733 0.00001
NM_005726.6(TSFM):c.*554A>G rs144070678 0.00001
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly) rs542571914 0.00001
NM_005726.6(TSFM):c.361-14A>G rs759604491 0.00001
NM_005726.6(TSFM):c.403C>T (p.Gln135Ter) rs751169823 0.00001
NM_005726.6(TSFM):c.484-10G>A rs374795252 0.00001
NM_005726.6(TSFM):c.484-11C>T rs752312466 0.00001
NM_005726.6(TSFM):c.48G>A (p.Gly16=) rs780011862 0.00001
NM_005726.6(TSFM):c.520G>T (p.Ala174Ser) rs886049731 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_006576.4(AVIL):c.*433A>C rs1397583217 0.00001
NM_001172696.1(TSFM):c.[355G>C];[997C>T]
NM_005726.6(TSFM):c.*20C>T rs886049732
NM_005726.6(TSFM):c.*491G>A rs1955751830
NM_005726.6(TSFM):c.*558C>T rs1955752539
NM_005726.6(TSFM):c.*561A>C rs886049734
NM_005726.6(TSFM):c.*98A>G rs1955745507
NM_005726.6(TSFM):c.115dup (p.Arg39fs)
NM_005726.6(TSFM):c.12G>T (p.Leu4=) rs773572404
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.192C>A (p.Cys64Ter) rs752852871
NM_005726.6(TSFM):c.223del (p.Leu75fs)
NM_005726.6(TSFM):c.231+1G>A
NM_005726.6(TSFM):c.231+1GT[6] rs762424912
NM_005726.6(TSFM):c.232-8A>G rs768661125
NM_005726.6(TSFM):c.243G>A (p.Trp81Ter)
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.321T>G (p.Ile107Met)
NM_005726.6(TSFM):c.375A>G (p.Thr125=) rs886049730
NM_005726.6(TSFM):c.382del (p.Val128fs)
NM_005726.6(TSFM):c.399del (p.Lys133fs) rs1955600413
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
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.551del (p.Asp184fs)
NM_005726.6(TSFM):c.559_560delinsA (p.Ala187fs)
NM_005726.6(TSFM):c.57+1G>A rs1403882425
NM_005726.6(TSFM):c.57+4A>G rs587777689
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.748G>T (p.Glu250Ter) rs1955738689
NM_005726.6(TSFM):c.74del (p.Arg25fs)
NM_005726.6(TSFM):c.76C>T (p.Gln26Ter) rs774870834
NM_005726.6(TSFM):c.774G>C (p.Gln258His)
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.830del (p.Gly277fs) rs1190369642
NM_005726.6(TSFM):c.85C>T (p.Gln29Ter) rs2140413092

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