ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_007215.4(POLG2):c.-81T>C rs9897606 0.29384
NM_007215.4(POLG2):c.505G>A (p.Ala169Thr) rs1427463 0.29359
NM_007215.4(POLG2):c.1110+44T>C rs7223078 0.29352
NM_007215.4(POLG2):c.1269C>T (p.Ser423=) rs61733782 0.08470
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_007215.4(POLG2):c.397C>T (p.His133Tyr) rs112984118 0.00371
NM_007215.4(POLG2):c.457C>G (p.Leu153Val) rs149446102 0.00023
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln) rs148101254 0.00016
NM_007215.4(POLG2):c.562+11C>T rs782336056 0.00013
NM_007215.4(POLG2):c.181G>A (p.Gly61Arg) rs144148008 0.00011
NM_007215.4(POLG2):c.496C>G (p.Gln166Glu) rs370683331 0.00010
NM_007215.4(POLG2):c.366G>T (p.Arg122Ser) rs781925329 0.00007
NM_007215.4(POLG2):c.-70T>C rs138418765 0.00005
NM_007215.4(POLG2):c.-85C>T rs886053252 0.00003
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) rs563130304 0.00002
NM_007215.4(POLG2):c.1444G>T (p.Ala482Ser) rs376087529 0.00001
NM_007215.4(POLG2):c.367G>A (p.Glu123Lys) rs377428467 0.00001
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp) rs886037843 0.00001
NM_007215.4(POLG2):c.-61G>A rs552693721
NM_007215.4(POLG2):c.-66C>T rs886053251
NM_007215.4(POLG2):c.1030C>T (p.Arg344Ter) rs782004592
NM_007215.4(POLG2):c.1060T>C (p.Phe354Leu)
NM_007215.4(POLG2):c.1189C>T (p.Gln397Ter)
NM_007215.4(POLG2):c.1191+6dup rs60611997
NM_007215.4(POLG2):c.1315T>C (p.Phe439Leu) rs2037794198
NM_007215.4(POLG2):c.1343_1347del (p.Thr447_Leu448insTer) rs1568079693
NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu) rs104894632
NM_007215.4(POLG2):c.1423_1424del (p.Leu475fs) rs1568079613
NM_007215.4(POLG2):c.358G>A (p.Val120Met) rs782034872
NM_007215.4(POLG2):c.381G>A (p.Pro127=) rs2038155788
NM_007215.4(POLG2):c.614C>G (p.Pro205Arg) rs397514659
NM_007215.4(POLG2):c.673C>T (p.Arg225Ter) rs371515325
NM_007215.4(POLG2):c.743C>T (p.Ser248Leu) rs1316363979
NM_007215.4(POLG2):c.749A>G (p.Gln250Arg) rs782071363
NM_007215.4(POLG2):c.770G>A (p.Arg257His)
NM_007215.4(POLG2):c.970-4G>A rs2037942296

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