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

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp)	rs28940289	0.00004
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)	rs745656120	0.00002
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)	rs1131691575	0.00001
NM_014297.5(ETHE1):c.505+1G>A	rs935855792	0.00001
NC_012920.1(MT-ATP6):m.8993T>C	rs199476133
NC_012920.1(MT-ATP6):m.8993T>G	rs199476133
NC_012920.1(MT-ATP6):m.9176T>C	rs199476135
NC_012920.1(MT-ATP6):m.9185T>C	rs199476138
NC_012920.1(MT-CO2):m.7896G>A	rs199474829
NC_012920.1(MT-ND1):m.1555A>G	rs267606617
NC_012920.1(MT-ND1):m.3460G>A	rs199476118
NC_012920.1(MT-ND3):m.10158T>C	rs199476117
NC_012920.1(MT-ND3):m.10191T>C	rs267606890
NC_012920.1(MT-ND3):m.10197G>A	rs267606891
NC_012920.1(MT-ND4):m.11778G>A	rs199476112
NC_012920.1(MT-ND5):m.13094T>C	rs1603224029
NC_012920.1(MT-ND5):m.13513G>A	rs267606897
NC_012920.1(MT-ND6):m.14459G>A	rs199476105
NC_012920.1(MT-ND6):m.14484T>C	rs199476104
NC_012920.1(MT-ND6):m.14487T>C	rs199476109
NC_012920.1(MT-TK):m.8344A>G	rs118192098
NC_012920.1(MT-TL1):m.3271T>C	rs199474658
NC_012920.1(MT-TN):m.5703G>A	rs199476130
NC_012920.1(MT-TS1):m.7445A>G	rs199474818
NC_012920.1(MT-TS1):m.7471dup	rs111033319
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	rs863224147
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	rs606231189
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)	rs863224150
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)
NM_002693.3(POLG):c.3643+2T>C	rs1335880349
NM_014297.5(ETHE1):c.505+1G>T	rs935855792
NM_014297.5(ETHE1):c.604dup (p.Val202fs)	rs1555761934

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