ClinVar Miner

List of variants reported as pathogenic for autosomal recessive progressive external ophthalmoplegia

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_004614.5(TK2):c.133C>T (p.Gln45Ter) rs281865486 0.00001
NM_004614.5(TK2):c.173A>G (p.Asn58Ser) rs138439950 0.00001
NM_004614.5(TK2):c.562A>G (p.Thr188Ala) rs281865495 0.00001
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter) rs2055531147
NM_002693.3(POLG):c.3643+2T>C rs1335880349
NM_002693.3(POLG):c.8G>C (p.Arg3Pro) rs121918045
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900

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