ClinVar Miner

List of variants in gene combination MILR1, POLG2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007215.4(POLG2):c.563-118A>G rs41553317 0.29365
NM_007215.4(POLG2):c.1110+44T>C rs7223078 0.29352
NM_007215.4(POLG2):c.1192-132A>G rs7225672 0.29209
NM_007215.4(POLG2):c.-81T>C rs9897606 0.28072
NM_007215.4(POLG2):c.562+112T>C rs3744409 0.28046
NM_007215.4(POLG2):c.505G>A (p.Ala169Thr) rs1427463 0.28041
NM_007215.4(POLG2):c.1111-157T>G rs17650301 0.22938
NM_007215.3(POLG2):c.-183T>C rs41563537 0.19662
NM_007215.4(POLG2):c.1269C>T (p.Ser423=) rs61733782 0.08470
NM_007215.4(POLG2):c.563-285G>A rs75724608 0.05399
NM_007215.4(POLG2):c.562+221G>A rs79547049 0.04107
NC_000017.11:g.64497333T>G rs116699616 0.01294
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_007215.4(POLG2):c.1191+196C>T rs9898261 0.00670
NM_007215.4(POLG2):c.1110+55G>A rs2042806 0.00659
NM_007215.4(POLG2):c.397C>T (p.His133Tyr) rs112984118 0.00354
NM_007215.4(POLG2):c.795+112T>C rs8078915 0.00317
NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu) rs61751983 0.00244
NM_007215.4(POLG2):c.1292+35T>C rs188828543 0.00237
NM_007215.4(POLG2):c.927C>T (p.His309=) rs73332195 0.00216
NM_007215.4(POLG2):c.122G>A (p.Gly41Glu) rs146504115 0.00164
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00082
NM_007215.4(POLG2):c.466A>G (p.Ile156Val) rs137901677 0.00054
NM_007215.4(POLG2):c.315G>A (p.Glu105=) rs142121495 0.00035
NM_007215.4(POLG2):c.590T>C (p.Leu197Pro) rs139282177 0.00028
NM_007215.4(POLG2):c.457C>G (p.Leu153Val) rs149446102 0.00025
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln) rs148101254 0.00017
NM_007215.4(POLG2):c.1268C>A (p.Ser423Tyr) rs181583071 0.00013
NM_007215.4(POLG2):c.181G>A (p.Gly61Arg) rs144148008 0.00011
NM_007215.4(POLG2):c.562+11C>T rs782336056 0.00011
NM_007215.4(POLG2):c.703A>G (p.Thr235Ala) rs148941150 0.00011
NM_007215.4(POLG2):c.496C>G (p.Gln166Glu) rs370683331 0.00010
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) rs563130304 0.00009
NM_007215.4(POLG2):c.624T>C (p.Leu208=) rs141293925 0.00009
NM_007215.4(POLG2):c.361T>G (p.Phe121Val) rs376142071 0.00008
NM_007215.4(POLG2):c.366G>T (p.Arg122Ser) rs781925329 0.00007
NM_007215.4(POLG2):c.694G>A (p.Gly232Ser) rs143660836 0.00006
NM_007215.4(POLG2):c.865C>G (p.Leu289Val) rs530697513 0.00005
NM_007215.4(POLG2):c.1262T>C (p.Met421Thr) rs782170612 0.00004
NM_007215.4(POLG2):c.1263G>A (p.Met421Ile) rs373214637 0.00004
NM_007215.4(POLG2):c.307G>A (p.Gly103Ser) rs200118378 0.00003
NM_007215.4(POLG2):c.734C>T (p.Pro245Leu) rs61751984 0.00003
NM_007215.4(POLG2):c.750G>C (p.Gln250His) rs1198172343 0.00003
NM_007215.4(POLG2):c.795+17C>T rs1555668715 0.00003
NM_007215.4(POLG2):c.970-18T>C rs782621581 0.00003
NM_007215.4(POLG2):c.-35T>C rs367696388 0.00001
NM_007215.4(POLG2):c.1111-11A>C rs1384201819 0.00001
NM_007215.4(POLG2):c.1144A>G (p.Lys382Glu) rs1418417668 0.00001
NM_007215.4(POLG2):c.1270T>C (p.Ser424Pro) rs2037835912 0.00001
NM_007215.4(POLG2):c.1295A>G (p.Tyr432Cys) rs782548679 0.00001
NM_007215.4(POLG2):c.1319C>T (p.Thr440Ile) rs200118292 0.00001
NM_007215.4(POLG2):c.150C>T (p.Leu50=) rs1202762031 0.00001
NM_007215.4(POLG2):c.176C>A (p.Ala59Asp) rs1169327234 0.00001
NM_007215.4(POLG2):c.262C>T (p.Arg88Trp) rs1450816986 0.00001
NM_007215.4(POLG2):c.271C>T (p.Leu91Phe) rs2038158699 0.00001
NM_007215.4(POLG2):c.326A>T (p.Asn109Ile) rs2144221884 0.00001
NM_007215.4(POLG2):c.341G>A (p.Trp114Ter) rs1064794586 0.00001
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp) rs886037843 0.00001
NM_007215.4(POLG2):c.563-18T>G rs782009459 0.00001
NM_007215.4(POLG2):c.625G>T (p.Ala209Ser) rs375795244 0.00001
NM_007215.4(POLG2):c.631A>G (p.Ile211Val) rs782686494 0.00001
NM_007215.4(POLG2):c.633T>A (p.Ile211=) rs1555668835 0.00001
NM_007215.4(POLG2):c.658G>C (p.Asp220His) rs782632950 0.00001
NM_007215.4(POLG2):c.937C>T (p.His313Tyr) rs782605785 0.00001
NC_000017.11:g.64477734A>G rs115601318
NM_007215.4(POLG2):c.1062C>G (p.Phe354Leu)
NM_007215.4(POLG2):c.1102del (p.His368fs) rs863224172
NM_007215.4(POLG2):c.1111-20dup rs1555666811
NM_007215.4(POLG2):c.1124_1127del (p.His375fs) rs2509525232
NM_007215.4(POLG2):c.1151C>T (p.Ala384Val)
NM_007215.4(POLG2):c.1190A>T (p.Gln397Leu) rs1382268738
NM_007215.4(POLG2):c.1191+1G>A rs2144141869
NM_007215.4(POLG2):c.1191+6dup rs60611997
NM_007215.4(POLG2):c.1192-1G>T rs1555666276
NM_007215.4(POLG2):c.1192-6_1192-3del rs781856879
NM_007215.4(POLG2):c.1293-295_1293-293del rs146752666
NM_007215.4(POLG2):c.1293G>C (p.Lys431Asn) rs863224170
NM_007215.4(POLG2):c.1324T>G (p.Leu442Val) rs1555665803
NM_007215.4(POLG2):c.1425_1428del (p.Ile476fs)
NM_007215.4(POLG2):c.355G>A (p.Val119Met)
NM_007215.4(POLG2):c.39C>G (p.Val13=) rs969072131
NM_007215.4(POLG2):c.402dup (p.Pro135fs) rs2509560479
NM_007215.4(POLG2):c.417A>G (p.Leu139=) rs1555669550
NM_007215.4(POLG2):c.434T>A (p.Phe145Tyr) rs2509560371
NM_007215.4(POLG2):c.514G>A (p.Glu172Lys)
NM_007215.4(POLG2):c.541C>G (p.Leu181Val)
NM_007215.4(POLG2):c.673C>T (p.Arg225Ter) rs371515325
NM_007215.4(POLG2):c.713_716delinsA (p.Ser238_Leu239delinsTer)
NM_007215.4(POLG2):c.734C>A (p.Pro245Gln) rs61751984
NM_007215.4(POLG2):c.746A>G (p.Asn249Ser)
NM_007215.4(POLG2):c.764G>C (p.Trp255Ser) rs1555668725
NM_007215.4(POLG2):c.795+116_795+120del rs199528555
NM_007215.4(POLG2):c.795+307T>C rs8078621
NM_007215.4(POLG2):c.796-2A>G rs2144187906
NM_007215.4(POLG2):c.873C>G (p.Tyr291Ter) rs1555668353
NM_007215.4(POLG2):c.931C>T (p.Leu311Phe)
NM_007215.4(POLG2):c.973C>T (p.Arg325Ter) rs1555667383
NM_007215.4(POLG2):c.991G>A (p.Val331Met)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.