ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001151.4(SLC25A4):c.252C>T (p.Thr84=) rs145413043 0.00074
NM_001151.4(SLC25A4):c.*3195T>C rs182549219 0.00056
NM_001151.4(SLC25A4):c.*2824G>C rs371093501 0.00045
NM_001151.4(SLC25A4):c.*3317G>A rs752130203 0.00034
NM_001151.4(SLC25A4):c.*3229A>G rs962471297 0.00024
NM_001151.4(SLC25A4):c.*1163G>T rs886059272 0.00019
NM_001151.4(SLC25A4):c.*2616C>T rs769378373 0.00018
NM_001151.4(SLC25A4):c.*3276C>T rs187103619 0.00013
NM_001151.4(SLC25A4):c.-65C>T rs1003618782 0.00009
NM_001151.4(SLC25A4):c.*3277G>A rs886059277 0.00006
NM_001151.4(SLC25A4):c.*2592C>T rs575736094 0.00004
NM_001151.4(SLC25A4):c.*994G>A rs901529350 0.00004
NM_001151.4(SLC25A4):c.331C>A (p.Arg111Ser) rs375543860 0.00002
NM_001151.4(SLC25A4):c.755C>T (p.Thr252Met) rs753197100 0.00002
NM_001151.4(SLC25A4):c.*151T>C rs373871091 0.00001
NM_001151.4(SLC25A4):c.*2475C>T rs192241746
NM_001151.4(SLC25A4):c.*824C>T rs779103031

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