ClinVar Miner

List of variants studied for ocular motility disease by OMIM

Included ClinVar conditions (159):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 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_002941.4(ROBO1):c.4565C>T (p.Ser1522Leu) rs199958211 0.00055
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile) rs746522359 0.00006
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) rs200944917 0.00006
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_004618.5(TOP3A):c.298A>G (p.Met100Val) rs376902371 0.00004
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) rs763615602 0.00004
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_015713.5(RRM2B):c.817G>A (p.Gly273Ser) rs387906891 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) rs780209390 0.00003
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_001080449.3(DNA2):c.593G>A (p.Arg198His) rs1272393477 0.00001
NM_001080449.3(DNA2):c.679A>G (p.Lys227Glu) rs760412883 0.00001
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile) rs766294940 0.00001
NM_002936.6(RNASEH1):c.469C>T (p.Arg157Ter) rs373442996 0.00001
NM_004614.5(TK2):c.562A>G (p.Thr188Ala) rs281865495 0.00001
NM_015713.5(RRM2B):c.97C>T (p.Pro33Ser) rs387906892 0.00001
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) rs267606682 0.00001
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) rs137852956 0.00001
NM_194277.3(FRMD7):c.1003C>T (p.Arg335Ter) rs137852208 0.00001
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg) rs137852211 0.00001
NM_194277.3(FRMD7):c.691T>G (p.Leu231Val) rs387906720 0.00001
NC_012920.1(MT-TL1):m.3249G>A rs199474667
NC_012920.1(MT-TY):m.5877C>T rs118203893
NC_012920.1(MT-TY):m.5888del rs118203892
NM_000273.3(GPR143):c.162_198del (p.Ala55fs)
NM_000273.3(GPR143):c.231_249dup (p.Gly84fs)
NM_000273.3(GPR143):c.266C>T (p.Ser89Phe) rs137852298
NM_001033.5(RRM1):c.1141C>T (p.Arg381Cys)
NM_001033.5(RRM1):c.1142G>A (p.Arg381His)
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) rs1590054876
NM_001151.4(SLC25A4):c.293T>C (p.Leu98Pro) rs104893876
NM_001151.4(SLC25A4):c.311A>G (p.Asp104Gly) rs28999114
NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro) rs104893873
NM_001151.4(SLC25A4):c.865G>A (p.Val289Met) rs104893874
NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr) rs121912588
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val) rs121912589
NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg) rs121912590
NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile) rs267607200
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) rs121912586
NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr) rs121912587
NM_002693.3(POLG):c.1532G>A (p.Ser511Asn) rs121918055
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser) rs121918051
NM_002693.3(POLG):c.8G>C (p.Arg3Pro) rs121918045
NM_002936.6(RNASEH1):c.554C>T (p.Ala185Val) rs1057517675
NM_004115.4(FGF14):c.211dup (p.Ile71fs)
NM_004115.4(FGF14):c.434T>C (p.Phe145Ser) rs104894393
NM_004115.4(FGF14):c.439G>T (p.Glu147Ter) rs865878627
NM_004115.4(FGF14):c.487del (p.Arg163fs) rs587776685
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter) rs1555370787
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly)
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val) rs104894269
NM_005169.4(PHOX2A):c.217+1G>A rs1590729541
NM_005169.4(PHOX2A):c.406-1G>A rs1178102382
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) rs267607165
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn) rs267607164
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His) rs267607164
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys) rs267607162
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr) rs267607163
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.614C>G (p.Pro205Arg) rs397514659
NM_015713.5(RRM2B):c.606T>A (p.Phe202Leu) rs515726194
NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer) rs515726199
NM_015713.5(RRM2B):c.965dup (p.Asn322fs) rs515726201
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) rs121918310
NM_021830.5(TWNK):c.1054_1092dup (p.His364_Lys365insLeuSerArgIleLeuArgThrAlaLeuProAlaTrpHis)
NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro) rs111033576
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) rs111033579
NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) rs111033577
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro) rs111033572
NM_021830.5(TWNK):c.944G>T (p.Trp315Leu) rs111033575
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) rs80356543
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys) rs762550967
NM_080916.3(DGUOK):c.186C>A (p.Tyr62Ter) rs879255617
NM_080916.3(DGUOK):c.605_606del (p.Arg202fs) rs863223949
NM_194277.3(FRMD7):c.1050+5G>A rs1602791884
NM_194277.3(FRMD7):c.1275_1276del (p.Glu426fs) rs2124209414
NM_194277.3(FRMD7):c.205+2T>G rs1928435502
NM_194277.3(FRMD7):c.252G>A (p.Val84=) rs137852209
NM_194277.3(FRMD7):c.38AGA[1] (p.Lys14del) rs1929191668
NM_194277.3(FRMD7):c.601C>T (p.Gln201Ter) rs137852207
NM_194277.3(FRMD7):c.685C>G (p.Arg229Gly) rs137852212
NM_194277.3(FRMD7):c.70G>A (p.Gly24Arg) rs137852210
NM_194277.3(FRMD7):c.812G>A (p.Cys271Tyr) rs387906721
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) rs886037741
NM_198721.4:c.368-5122_708+6063del

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