ClinVar Miner

List of variants in gene TSFM reported as uncertain significance for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
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.*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.644C>T (p.Ser215Phe) rs376562033 0.00025
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.*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.*182T>G rs188261377 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_005726.6(TSFM):c.*461T>C rs886049733 0.00001
NM_005726.6(TSFM):c.*554A>G rs144070678 0.00001
NM_005726.6(TSFM):c.361-14A>G rs759604491 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.*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.12G>T (p.Leu4=) rs773572404
NM_005726.6(TSFM):c.231+1GT[6] rs762424912
NM_005726.6(TSFM):c.232-8A>G rs768661125
NM_005726.6(TSFM):c.233C>T (p.Ala78Val) rs886049729
NM_005726.6(TSFM):c.243G>A (p.Trp81Ter)
NM_005726.6(TSFM):c.321T>G (p.Ile107Met)
NM_005726.6(TSFM):c.375A>G (p.Thr125=) rs886049730
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
NM_005726.6(TSFM):c.830del (p.Gly277fs) rs1190369642

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