ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1250+188A>G rs3176174 0.57671
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002693.3(POLG):c.3483-164A>C rs3176231 0.01667
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_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
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

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