List of variants reported as uncertain significance for autosomal recessive progressive external ophthalmoplegia

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		ClinVar version:

Total variants: 81

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	rs61752783	0.00516
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	rs61752784	0.00364
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)	rs145289229	0.00194
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	rs147407423	0.00166
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)	rs138457939	0.00092
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)	rs3176162	0.00071
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)	rs150233690	0.00062
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)	rs551708243	0.00032
NM_002693.3(POLG):c.328C>T (p.His110Tyr)	rs139599587	0.00026
NM_002693.3(POLG):c.2369G>A (p.Arg790His)	rs191490663	0.00021
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)	rs200257554	0.00017
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)	rs765472726	0.00016
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser)	rs368614463	0.00012
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser)	rs201192905	0.00009
NM_002693.3(POLG):c.719C>T (p.Ser240Leu)	rs369175235	0.00008
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala)	rs757315161	0.00006
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)	rs78347903	0.00006
NM_002693.3(POLG):c.346C>T (p.Pro116Ser)	rs771676521	0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)	rs199751339	0.00006
NM_002693.3(POLG):c.2069C>T (p.Thr690Met)	rs201677865	0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu)	rs776848222	0.00004
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)	rs760170099	0.00004
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln)	rs536732038	0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)	rs148786642	0.00004
NM_002693.3(POLG):c.2027C>T (p.Ala676Val)	rs376306906	0.00003
NM_002693.3(POLG):c.2704C>G (p.Leu902Val)	rs745528696	0.00003
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys)	rs551811489	0.00003
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser)	rs530757118	0.00003
NM_002693.3(POLG):c.629C>T (p.Thr210Ile)	rs1450989575	0.00003
NM_002693.3(POLG):c.739C>G (p.Leu247Val)	rs754696832	0.00003
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala)	rs767216577	0.00002
NM_002693.3(POLG):c.2468G>A (p.Arg823His)	rs751172552	0.00002
NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys)	rs760043525	0.00002
NM_002693.3(POLG):c.3077G>A (p.Arg1026His)	rs777038915	0.00002
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr)	rs770149949	0.00002
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln)	rs199678775	0.00002
NM_002693.3(POLG):c.114G>T (p.Gly38=)	rs794727268	0.00001
NM_002693.3(POLG):c.1328G>A (p.Arg443His)	rs796052903	0.00001
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln)	rs1481695998	0.00001
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp)	rs754245040	0.00001
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg)	rs917815816	0.00001
NM_002693.3(POLG):c.1936G>T (p.Val646Phe)	rs757131755	0.00001
NM_002693.3(POLG):c.200G>C (p.Gly67Ala)	rs1399456619	0.00001
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser)	rs1446536384	0.00001
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys)	rs778190998	0.00001
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr)	rs1307399071	0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu)	rs1057523186	0.00001
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys)	rs762593265	0.00001
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp)	rs1381291951	0.00001
NM_002693.3(POLG):c.3273+17G>A	rs368578878	0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)	rs1354582663	0.00001
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)	rs765949668	0.00001
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys)	rs149099318	0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser)	rs753864625	0.00001
NM_002693.3(POLG):c.402C>G (p.Asn134Lys)	rs759939229	0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg)	rs1056580076	0.00001
NM_002693.3(POLG):c.730C>G (p.Leu244Val)	rs367959489	0.00001
NM_002693.3(POLG):c.856-3C>T	rs576339221	0.00001
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)	rs564582352	0.00001
NM_002693.3(POLG):c.869G>A (p.Arg290His)	rs146603953	0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys)	rs796052895	0.00001
NM_002693.3(POLG):c.995C>T (p.Ser332Phe)	rs1567192290	0.00001
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)	rs775576189
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
NM_002693.3(POLG):c.1420C>A (p.Leu474Ile)	rs1555453653
NM_002693.3(POLG):c.1433+5C>T	rs924516946
NM_002693.3(POLG):c.1491G>C (p.Gln497His)	rs121918052
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala)	rs577476988
NM_002693.3(POLG):c.2059A>G (p.Ile687Val)	rs796052881
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del)	rs760784347
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp)	rs2152063213
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro)	rs2055426653
NM_002693.3(POLG):c.2466C>G (p.Pro822=)	rs1235161601
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser)	rs906230544
NM_002693.3(POLG):c.2530G>A (p.Val844Met)	rs1555452881
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)	rs121918049
NM_002693.3(POLG):c.3482+6C>T	rs55779802
NM_002693.3(POLG):c.729C>A (p.Asp243Glu)	rs757917194
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)	rs1555453950
NM_004614.5(TK2):c.126_128del (p.Asp42_Lys43delinsGlu)

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