ClinVar Miner

List of variants reported as uncertain significance for ocular motility disease

Included ClinVar conditions (160):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 433
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
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_194277.3(FRMD7):c.*600C>G rs750133372 0.00247
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_194277.3(FRMD7):c.*573G>T rs963218129 0.00064
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_015713.5(RRM2B):c.*1510T>C rs577176343 0.00062
NM_001173464.2(KIF21A):c.*582G>A rs767760567 0.00058
NM_001151.4(SLC25A4):c.*3195T>C rs182549219 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00046
NM_001151.4(SLC25A4):c.*2824G>C rs371093501 0.00045
NM_001173464.2(KIF21A):c.*451A>G rs183559712 0.00045
NM_017641.3(KIF21A):c.-345G>A rs886049353 0.00044
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) rs184770596 0.00044
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_015713.5(RRM2B):c.*869G>T rs771055735 0.00039
NM_001151.4(SLC25A4):c.*3317G>A rs752130203 0.00034
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
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_015713.5(RRM2B):c.*3266G>T rs746260787 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_001151.4(SLC25A4):c.*3229A>G rs962471297 0.00024
NM_001151.4(SLC25A4):c.*1546T>C rs762473759 0.00023
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_001151.4(SLC25A4):c.*1163G>T rs886059272 0.00019
NM_001151.4(SLC25A4):c.*2616C>T rs769378373 0.00018
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_001173464.2(KIF21A):c.-147C>A rs886049348 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00015
NM_001151.4(SLC25A4):c.*2697T>C rs768164742 0.00014
NM_001173464.2(KIF21A):c.-146G>A rs886049347 0.00014
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
NM_198721.4(COL25A1):c.130G>A (p.Val44Met) rs201162812 0.00014
NM_001151.4(SLC25A4):c.*3276C>T rs187103619 0.00013
NM_007215.4(POLG2):c.562+11C>T rs782336056 0.00013
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_194277.3(FRMD7):c.1643A>C (p.Gln548Pro) rs776519156 0.00012
NM_015713.5(RRM2B):c.*2410C>A rs767476703 0.00011
NM_015713.5(RRM2B):c.*2722A>G rs543127762 0.00011
NM_015713.5(RRM2B):c.*2978A>G rs761021253 0.00010
NM_015713.5(RRM2B):c.*3118T>G rs1010967137 0.00010
NM_015713.5(RRM2B):c.*328G>A rs142449540 0.00010
NM_001151.4(SLC25A4):c.*3025G>A rs773137655 0.00009
NM_001151.4(SLC25A4):c.-65C>T rs1003618782 0.00009
NM_001173464.2(KIF21A):c.44+5G>A rs986920207 0.00009
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_015713.5(RRM2B):c.*552G>A rs375924434 0.00009
NM_017641.3(KIF21A):c.-339C>A rs886049352 0.00009
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00009
NM_194277.3(FRMD7):c.*285C>T rs766974170 0.00009
NM_194277.3(FRMD7):c.458G>A (p.Cys153Tyr) rs199857416 0.00009
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) rs751144474 0.00008
NM_007215.4(POLG2):c.366G>T (p.Arg122Ser) rs781925329 0.00007
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_001151.4(SLC25A4):c.*3277G>A rs886059277 0.00006
NM_001151.4(SLC25A4):c.*671A>G rs181474745 0.00006
NM_001173464.2(KIF21A):c.825C>T (p.Leu275=) rs143876096 0.00006
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_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_194277.3(FRMD7):c.*196G>C rs1057515770 0.00006
NM_194277.3(FRMD7):c.718A>G (p.Ile240Val) rs773037705 0.00006
NM_001151.4(SLC25A4):c.-46G>A rs763271934 0.00005
NM_015713.5(RRM2B):c.48+156G>A rs773501860 0.00005
NM_001151.4(SLC25A4):c.*2592C>T rs575736094 0.00004
NM_001151.4(SLC25A4):c.*3336G>A rs925362228 0.00004
NM_001151.4(SLC25A4):c.*448G>A rs767635362 0.00004
NM_001151.4(SLC25A4):c.*994G>A rs901529350 0.00004
NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala) rs778220343 0.00004
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.2509T>C (p.Tyr837His) rs544828395 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_015713.5(RRM2B):c.613A>G (p.Ile205Val) rs144088421 0.00004
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00004
NM_194277.3(FRMD7):c.1481A>G (p.Gln494Arg) rs199576118 0.00004
NM_194277.3(FRMD7):c.1799G>A (p.Arg600His) rs751994722 0.00004
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu) rs936878316 0.00003
NM_001151.4(SLC25A4):c.*1217A>C rs1048884006 0.00003
NM_001151.4(SLC25A4):c.*2618C>G rs1271807284 0.00003
NM_001173464.2(KIF21A):c.*65G>A rs888970061 0.00003
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_007215.3(POLG2):c.-87G>A rs886053253 0.00003
NM_007215.4(POLG2):c.-85C>T rs886053252 0.00003
NM_007215.4(POLG2):c.775C>T (p.Arg259Ter) rs782006396 0.00003
NM_014462.3(LSM1):c.231+4A>C rs775468919 0.00003
NM_015713.5(RRM2B):c.755G>A (p.Arg252Lys) rs754931572 0.00003
NM_015713.5(RRM2B):c.817G>A (p.Gly273Ser) rs387906891 0.00003
NM_194277.3(FRMD7):c.*300T>C rs1029630139 0.00003
NM_194277.3(FRMD7):c.1200G>A (p.Ala400=) rs61751728 0.00003
NM_194277.3(FRMD7):c.157A>G (p.Asn53Asp) rs946251964 0.00003
NM_194277.3(FRMD7):c.1588C>T (p.Pro530Ser) rs200651852 0.00003
NM_194277.3(FRMD7):c.992A>G (p.Gln331Arg) rs773298405 0.00003
NM_001151.4(SLC25A4):c.*655G>C rs951763559 0.00002
NM_001151.4(SLC25A4):c.331C>A (p.Arg111Ser) rs375543860 0.00002
NM_001151.4(SLC25A4):c.755C>T (p.Thr252Met) rs753197100 0.00002
NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp) rs1458182449 0.00002
NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys) rs749644826 0.00002
NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr) rs748150530 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 0.00002
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219 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_004618.5(TOP3A):c.1723A>G (p.Met575Val) rs372121045 0.00002
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_015713.5(RRM2B):c.*2613del rs886062563 0.00002
NM_015713.5(RRM2B):c.*2885A>G rs29000291 0.00002
NM_015713.5(RRM2B):c.*788T>C rs559700946 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_000089.4(COL1A2):c.280-7T>C rs750868020 0.00001
NM_000273.3(GPR143):c.947G>A (p.Cys316Tyr) rs1348263627 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001080449.3(DNA2):c.411G>C (p.Met137Ile) rs760968251 0.00001
NM_001151.4(SLC25A4):c.*151T>C rs373871091 0.00001
NM_001151.4(SLC25A4):c.*2037del rs886059273 0.00001
NM_001151.4(SLC25A4):c.*2350G>C rs886059274 0.00001
NM_001151.4(SLC25A4):c.*2782G>A rs886059276 0.00001
NM_001151.4(SLC25A4):c.*3264G>A rs1246606859 0.00001
NM_001151.4(SLC25A4):c.*3335C>T rs1734517872 0.00001
NM_001151.4(SLC25A4):c.*3394A>G rs1449333012 0.00001
NM_001151.4(SLC25A4):c.793G>A (p.Glu265Lys) rs772055424 0.00001
NM_001173464.2(KIF21A):c.*326T>A rs886049337 0.00001
NM_001173464.2(KIF21A):c.*531T>C rs1479577907 0.00001
NM_001173464.2(KIF21A):c.268-14G>T rs762377796 0.00001
NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr) rs886049344 0.00001
NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln) rs749290916 0.00001
NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr) rs886049339 0.00001
NM_001173464.2(KIF21A):c.681T>C (p.His227=) rs753495640 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
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.3527C>T (p.Ser1176Leu) rs776031396 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.88G>A (p.Val30Ile) rs1321405180 0.00001
NM_002693.3(POLG):c.995C>T (p.Ser332Phe) rs1567192290 0.00001
NM_004618.5(TOP3A):c.1982G>A (p.Cys661Tyr) rs1214589149 0.00001
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.562G>C (p.Gly188Arg) rs1339478122 0.00001
NM_015713.5(RRM2B):c.*1522A>G rs889321989 0.00001
NM_015713.5(RRM2B):c.*1664T>A rs1810545907 0.00001
NM_015713.5(RRM2B):c.*2960G>A rs886062561 0.00001
NM_015713.5(RRM2B):c.*3125T>C rs886062560 0.00001
NM_015713.5(RRM2B):c.*3289A>G rs569359604 0.00001
NM_015713.5(RRM2B):c.-1G>C rs1437655477 0.00001
NM_015713.5(RRM2B):c.119G>A (p.Arg40His) rs765953819 0.00001
NM_015713.5(RRM2B):c.162A>G (p.Lys54=) rs746927643 0.00001
NM_015713.5(RRM2B):c.470A>G (p.Asn157Ser) rs751231428 0.00001
NM_015713.5(RRM2B):c.503A>G (p.Lys168Arg) rs886062571 0.00001
NM_015713.5(RRM2B):c.97C>T (p.Pro33Ser) rs387906892 0.00001
NM_017641.3(KIF21A):c.-245C>T rs886049350 0.00001
NM_017641.3(KIF21A):c.-392G>C rs886049354 0.00001
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00001
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_194277.3(FRMD7):c.1646T>A (p.Val549Glu) rs1308080722 0.00001
NM_194277.3(FRMD7):c.285-3C>T rs750320516 0.00001
NM_194277.3(FRMD7):c.308A>C (p.Lys103Thr) rs759784671 0.00001
NM_194277.3(FRMD7):c.58-6G>A rs750979330 0.00001
46;XX;inv(14)(q24.1q32.1)dn
46;XX;inv(5)(q14q33)dn
46;XY;t(1;14)(q42;q13)
46;XY;t(1;3)(p22;q21)dn
46;XY;t(2;14)(p23;q13)dn
46;XY;t(4;14)(p14;q11.2)dn
46;XY;t(4;14)(p15.32;q32.1)dn
46;XY;t(6;11)(q23;q21)or(q25;q21)dn
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
GRCh37/hg19 7q36.3(chr7:156333296-156556779)
GRCh37/hg19 7q36.3(chr7:156656444-156866708)
NC_012920.1(MT-TK):m.8319A>G rs1603221401
NC_012920.1(MT-TL1):m.3249G>A rs199474667
NC_012920.1(MT-TS1):m.7486G>A rs1556423295
NM_000273.3(GPR143):c.131G>A (p.Gly44Asp)
NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His) rs2133402393
NM_001080449.3(DNA2):c.1450del (p.Arg484fs) rs2133386949
NM_001080449.3(DNA2):c.1462G>A (p.Val488Ile)
NM_001080449.3(DNA2):c.1982_1983del (p.Leu661fs)
NM_001080449.3(DNA2):c.2219C>G (p.Ala740Gly) rs2051684928
NM_001080449.3(DNA2):c.2546G>T (p.Gly849Val) rs2133361857
NM_001080449.3(DNA2):c.876C>A (p.Tyr292Ter)
NM_001151.4(SLC25A4):c.*1378A>G rs868358526
NM_001151.4(SLC25A4):c.*2150G>T rs894890311
NM_001151.4(SLC25A4):c.*2363G>A rs753110221
NM_001151.4(SLC25A4):c.*2475C>T rs192241746
NM_001151.4(SLC25A4):c.*2499G>T rs1579212062
NM_001151.4(SLC25A4):c.*2510T>C rs1579212069
NM_001151.4(SLC25A4):c.*2713G>A rs886059275
NM_001151.4(SLC25A4):c.*2720G>A rs559222593
NM_001151.4(SLC25A4):c.*2802C>T rs1031240359
NM_001151.4(SLC25A4):c.*424A>G rs886059269
NM_001151.4(SLC25A4):c.*482G>C rs1734462158
NM_001151.4(SLC25A4):c.*571T>G rs370688019
NM_001151.4(SLC25A4):c.*824C>T rs779103031
NM_001151.4(SLC25A4):c.448G>A (p.Ala150Thr)
NM_001151.4(SLC25A4):c.47G>A (p.Gly16Asp)
NM_001151.4(SLC25A4):c.732G>C (p.Arg244=) rs886059266
NM_001151.4(SLC25A4):c.742G>A (p.Asp248Asn) rs755597294
NM_001151.4(SLC25A4):c.787A>G (p.Lys263Glu)
NM_001173464.2(KIF21A):c.*1010T>C rs886049332
NM_001173464.2(KIF21A):c.*1022A>T rs886049331
NM_001173464.2(KIF21A):c.*1157A>T rs886049330
NM_001173464.2(KIF21A):c.*211C>G rs886049338
NM_001173464.2(KIF21A):c.*366C>T rs1942069691
NM_001173464.2(KIF21A):c.*690T>C rs886049336
NM_001173464.2(KIF21A):c.*690dup rs34373131
NM_001173464.2(KIF21A):c.*845dup rs886049334
NM_001173464.2(KIF21A):c.*935A>G rs886049333
NM_001173464.2(KIF21A):c.-41G>A rs886049346
NM_001173464.2(KIF21A):c.10G>A (p.Ala4Thr)
NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val) rs375541289
NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr) rs886049345
NM_001173464.2(KIF21A):c.1674-1G>A
NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=) rs1947443550
NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr) rs1227646139
NM_001173464.2(KIF21A):c.2418+2T>C rs1565839016
NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe) rs779688115
NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg) rs764601859
NM_001173464.2(KIF21A):c.2516C>T (p.Pro839Leu) rs1592198426
NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=) rs148166854
NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn) rs886049343
NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile) rs1946526630
NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu) rs1316892081
NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn) rs886049342
NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs) rs1565724893
NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs) rs1565724702
NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=) rs1944493997
NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val) rs886049341
NM_001173464.2(KIF21A):c.44+15C>G rs1478935702
NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu) rs886049340
NM_001173464.2(KIF21A):c.4602_4606del (p.Thr1535fs)
NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu) rs1942967439
NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu) rs373406994
NM_001173464.2(KIF21A):c.847C>T (p.Arg283Cys)
NM_001256012.3(MYH10):c.938G>T (p.Gly313Val)
NM_001256012.3(MYH10):c.965A>G (p.Asn322Ser)
NM_001308120.2(TOGARAM1):c.3361A>G (p.Thr1121Ala)
NM_001308120.2(TOGARAM1):c.3932G>A (p.Arg1311His)
NM_001323342.2(AHCTF1):c.3673C>T (p.Arg1225Ter) rs1558223606
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu) rs1556619324
NM_001903.5(CTNNA1):c.2438A>C (p.Asp813Ala)
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) rs1765343397
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.1787T>G (p.Met596Arg)
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.2363_2374del (p.Gly788_Leu792delinsVal)
NM_002693.3(POLG):c.2386A>C (p.Lys796Gln)
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.3393C>G (p.Ile1131Met)
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3488T>A (p.Met1163Lys)
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.975dup (p.Thr326fs)
NM_002936.6(RNASEH1):c.526C>T (p.Leu176Phe)
NM_002936.6(RNASEH1):c.532G>A (p.Gly178Arg)
NM_002941.4(ROBO1):c.3396TCC[1] (p.Pro1134del) rs752249344
NM_003906.5(MCM3AP):c.5116C>T (p.Leu1706Phe)
NM_004104.5(FASN):c.1249_1250dup (p.Ala418fs)
NM_004115.4(FGF14):c.193+3C>T
NM_004115.4(FGF14):c.20G>T (p.Ser7Ile)
NM_004115.4(FGF14):c.256C>T (p.His86Tyr)
NM_004614.5(TK2):c.126_128del (p.Asp42_Lys43delinsGlu)
NM_004618.5(TOP3A):c.241-13T>G rs1981719689
NM_005035.4(POLRMT):c.719C>T (p.Pro240Leu)
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val) rs104894269
NM_005461.5(MAFB):c.821T>C (p.Ile274Thr)
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) rs1561523716
NM_006082.3(TUBA1B):c.554A>G (p.Tyr185Cys)
NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys)
NM_006086.4(TUBB3):c.418G>C (p.Gly140Arg)
NM_006086.4(TUBB3):c.631T>C (p.Cys211Arg) rs1567765029
NM_006086.4(TUBB3):c.640A>G (p.Thr214Ala)
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu) rs587784506
NM_006087.4(TUBB4A):c.800T>C (p.Met267Thr)
NM_006617.2(NES):c.23A>T (p.Glu8Val)
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.1315T>C (p.Phe439Leu) rs2037794198
NM_007215.4(POLG2):c.1343_1347del (p.Thr447_Leu448insTer) rs1568079693
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.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
NM_012064.4(MIP):c.513del (p.His172fs) rs1868688386
NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)
NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)
NM_015713.4(RRM2B):c.-193G>C rs1325086159
NM_015713.5(RRM2B):c.*1337G>C rs962002084
NM_015713.5(RRM2B):c.*1451A>C rs11575864
NM_015713.5(RRM2B):c.*1552T>C rs1051017101
NM_015713.5(RRM2B):c.*1717T>A rs886062566
NM_015713.5(RRM2B):c.*2328A>T rs886062565
NM_015713.5(RRM2B):c.*247G>A rs886062568
NM_015713.5(RRM2B):c.*2492AAGTT[1] rs886062564
NM_015713.5(RRM2B):c.*2513T>C rs866323859
NM_015713.5(RRM2B):c.*2728G>A rs1810526776
NM_015713.5(RRM2B):c.*2809G>A rs886062562
NM_015713.5(RRM2B):c.*2991C>T rs972415772
NM_015713.5(RRM2B):c.*2995A>T rs1810522232
NM_015713.5(RRM2B):c.*3250G>C rs1279038036
NM_015713.5(RRM2B):c.*3473A>G rs1810512728
NM_015713.5(RRM2B):c.*3577G>T rs779768316
NM_015713.5(RRM2B):c.*436A>G rs1810567744
NM_015713.5(RRM2B):c.*485A>C rs531379490
NM_015713.5(RRM2B):c.*73A>T rs886062570
NM_015713.5(RRM2B):c.*74del rs886062569
NM_015713.5(RRM2B):c.*855C>G rs886062567
NM_015713.5(RRM2B):c.*895G>A rs1810559850
NM_015713.5(RRM2B):c.143A>G (p.Gln48Arg) rs747846279
NM_015713.5(RRM2B):c.258G>T (p.Lys86Asn) rs536874925
NM_015713.5(RRM2B):c.320T>C (p.Leu107Ser)
NM_015713.5(RRM2B):c.48+188del rs758091261
NM_015713.5(RRM2B):c.602C>T (p.Ser201Phe)
NM_015713.5(RRM2B):c.606T>A (p.Phe202Leu) rs515726194
NM_017641.3(KIF21A):c.-203C>G rs886049349
NM_017641.3(KIF21A):c.-335C>G rs886049351
NM_019113.4(FGF21):c.133C>T (p.Arg45Trp)
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-304G>A rs200599543
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1566G>A (p.Met522Ile) rs1219162535
NM_021830.5(TWNK):c.1826G>A (p.Arg609His)
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) rs886046630
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.299T>G (p.Phe100Cys)
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.827C>T (p.Thr276Met)
NM_021830.5(TWNK):c.868T>A (p.Leu290Ile) rs2133937386
NM_021830.5(TWNK):c.905G>A (p.Arg302Gln)
NM_030632.3(ASXL3):c.1354G>A (p.Glu452Lys) rs2067593629
NM_080916.3(DGUOK):c.14G>A (p.Arg5His)
NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys) rs1204316787
NM_080916.3(DGUOK):c.789AGA[1] (p.Glu264del) rs1396335431
NM_175737.4(KLB):c.1469G>A (p.Arg490Gln)
NM_176795.5(HRAS):c.500dup (p.Pro169fs) rs35613389
NM_178014.4(TUBB):c.1198G>C (p.Gly400Arg)
NM_194277.3(FRMD7):c.*293G>C rs1057515769
NM_194277.3(FRMD7):c.-100G>T rs1057515772
NM_194277.3(FRMD7):c.-102G>A rs1057515773
NM_194277.3(FRMD7):c.285-12A>G rs1486391487
NM_194277.3(FRMD7):c.384A>G (p.Ser128=) rs1927977937
NM_194277.3(FRMD7):c.775G>A (p.Ala259Thr)
NM_194277.3(FRMD7):c.810T>G (p.Thr270=)
NM_194277.3(FRMD7):c.904A>C (p.Ser302Arg) rs1057515771
NM_198721.4(COL25A1):c.1585G>A (p.Gly529Ser)

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