List of variants reported as benign by ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1250+188A>G	rs3176174	0.57671
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)	rs1126565	0.28594
NM_014297.5(ETHE1):c.6G>A (p.Ala2=)	rs3810381	0.17604
NM_014297.5(ETHE1):c.712+181A>G	rs12985024	0.14035
NM_014297.5(ETHE1):c.505+264T>G	rs117069120	0.07395
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	rs2307441	0.02704
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser)	rs116440799	0.01995
NM_002693.3(POLG):c.3483-164A>C	rs3176231	0.01667
NM_014297.5(ETHE1):c.712+88G>A	rs150923593	0.01545
NM_002693.3(POLG):c.2254C>T (p.Leu752=)	rs41564016	0.01204
NM_002693.3(POLG):c.3597C>A (p.Thr1199=)	rs2307443	0.00770
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)	rs2229137	0.00715
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)	rs2307450	0.00547
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys)	rs2307447	0.00542
NM_014297.5(ETHE1):c.227-9C>G	rs199921503	0.00367
NM_014297.5(ETHE1):c.*55G>T	rs201842186	0.00160
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp)	rs2228067	0.00124
NM_014297.5(ETHE1):c.573C>T (p.Ile191=)	rs139119694	0.00006
NC_012920.1(MT-ATP6):m.8932C>T	rs878853013
NC_012920.1(MT-ATP6):m.9055G>A	rs193303045
NC_012920.1(MT-ATP6):m.9091A>G	rs1057520079
NC_012920.1(MT-ATP8):m.8557G>A	rs386829040
NC_012920.1(MT-CO1):m.7028C>T	rs2015062
NC_012920.1(MT-CYB):m.15326A>G	rs2853508
NC_012920.1(MT-ND5):m.12811T>C	rs199974018
NC_012920.1(MT-TG):m.10034T>C	rs41347846
NC_012920.1(MT-TL2):m.12308A>G	rs2853498
NC_012920.1(MT-TQ):m.4336T>C	rs41456348
NC_012920.1(MT-TS1):m.7476C>T	rs201950015
NC_012920.1(MT-TS2):m.12239C>T	rs376062400
NC_012920.1:m.4769A>G	rs3021086
NM_002693.3(POLG):c.3483-41A>C	rs2307436
NM_014297.5(ETHE1):c.378G>A (p.Ala126=)	rs138427304

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