ClinVar Miner

List of variants studied for Duane retraction syndrome

Included ClinVar conditions (10):
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ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_001822.7(CHN1):c.886+15G>A rs12613075 0.35597
NM_001822.7(CHN1):c.-68G>A rs117866326 0.01117
NM_001822.7(CHN1):c.*677G>A rs192645480 0.00835
NM_001822.7(CHN1):c.*643A>T rs74780149 0.00675
NM_001822.7(CHN1):c.*28T>C rs143852940 0.00589
NM_001822.7(CHN1):c.*564G>A rs144057045 0.00155
NM_001822.7(CHN1):c.588C>T (p.Asn196=) rs146313212 0.00071
NM_001822.7(CHN1):c.-36C>T rs775399462 0.00063
NM_001822.7(CHN1):c.237A>G (p.Pro79=) rs377261893 0.00038
NM_001822.7(CHN1):c.*635A>C rs562879539 0.00026
NM_001822.7(CHN1):c.1002A>G (p.Glu334=) rs376051698 0.00020
NM_005461.5(MAFB):c.542A>T (p.Gln181Leu) rs776350709 0.00019
NM_001822.7(CHN1):c.*337G>C rs996643545 0.00016
NM_005461.5(MAFB):c.577C>T (p.His193Tyr) rs771536349 0.00015
NM_198721.4(COL25A1):c.130G>A (p.Val44Met) rs201162812 0.00014
NM_001822.7(CHN1):c.628-15C>T rs529028832 0.00012
NM_001822.7(CHN1):c.*252C>T rs1023136528 0.00009
NM_001822.7(CHN1):c.*756C>T rs759449440 0.00009
NM_001822.7(CHN1):c.-271T>C rs543170770 0.00006
NM_001822.7(CHN1):c.*309G>A rs540973790 0.00005
NM_001822.7(CHN1):c.-206G>A rs1379842544 0.00005
NM_001822.7(CHN1):c.1115C>T (p.Pro372Leu) rs765652152 0.00005
NM_001822.7(CHN1):c.7C>T (p.Leu3=) rs755734334 0.00005
NM_001822.7(CHN1):c.*426C>T rs755474438 0.00004
NM_001822.7(CHN1):c.*668T>C rs369718610 0.00004
NM_001822.7(CHN1):c.177C>T (p.Ala59=) rs771446302 0.00004
NM_001822.7(CHN1):c.297C>T (p.Tyr99=) rs35358913 0.00004
NM_001822.7(CHN1):c.500C>T (p.Thr167Ile) rs752956891 0.00004
NM_005461.5(MAFB):c.393C>A (p.His131Gln) rs121912307 0.00004
NM_001822.7(CHN1):c.147-4T>G rs767192888 0.00003
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp) rs374174345 0.00003
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) rs780209390 0.00003
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 0.00002
NM_001822.7(CHN1):c.-74C>T rs886055155 0.00002
NM_001822.7(CHN1):c.67C>T (p.Leu23=) rs371593822 0.00002
NM_001822.7(CHN1):c.964+6T>G rs764237103 0.00002
NM_005461.5(MAFB):c.617G>A (p.Ser206Asn) rs909242045 0.00002
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) rs1356639316 0.00001
NM_001822.7(CHN1):c.*154G>A rs529610497 0.00001
NM_001822.7(CHN1):c.*198A>G rs1198628794 0.00001
NM_001822.7(CHN1):c.*422C>T rs1294339436 0.00001
NM_001822.7(CHN1):c.*52T>C rs1211907844 0.00001
NM_001822.7(CHN1):c.*608A>G rs886055153 0.00001
NM_001822.7(CHN1):c.*687_*691del rs886055152 0.00001
NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr) rs552090021 0.00001
NM_001822.7(CHN1):c.193G>A (p.Val65Met) rs370140469 0.00001
NM_001822.7(CHN1):c.378T>G (p.Ile126Met) rs121912793 0.00001
NM_001822.7(CHN1):c.550-4G>A rs972339540 0.00001
NM_001822.7(CHN1):c.80C>G (p.Ala27Gly) rs1689781072 0.00001
NM_001822.7(CHN1):c.962G>C (p.Arg321Thr) rs202153128 0.00001
NM_005461.5(MAFB):c.125C>T (p.Pro42Leu) rs1290466873 0.00001
NM_005461.5(MAFB):c.457G>C (p.Asp153His) rs893483748 0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809 0.00001
NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter) rs1274380766 0.00001
NM_198721.4(COL25A1):c.672+1G>A rs759316372 0.00001
46;XY;t(16;20)(q11.2;q13.2)dn
GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1
NM_001822.7(CHN1):c.*214dup rs574270883
NM_001822.7(CHN1):c.*256C>T rs771199357
NM_001822.7(CHN1):c.*734_*737del rs66480716
NM_001822.7(CHN1):c.-104C>T rs886055156
NM_001822.7(CHN1):c.-160C>G rs572040045
NM_001822.7(CHN1):c.-23G>T rs1252265676
NM_001822.7(CHN1):c.-298C>G rs879722535
NM_001822.7(CHN1):c.-353C>T rs1692031513
NM_001822.7(CHN1):c.1319A>G (p.Asp440Gly) rs369847378
NM_001822.7(CHN1):c.225C>G (p.Ser75Arg) rs1452850610
NM_001822.7(CHN1):c.361T>G (p.Leu121Val)
NM_001822.7(CHN1):c.422C>T (p.Pro141Leu) rs387906599
NM_001822.7(CHN1):c.427T>C (p.Tyr143His) rs121912794
NM_001822.7(CHN1):c.432G>C (p.Glu144Asp) rs886055154
NM_001822.7(CHN1):c.435C>T (p.His145=) rs527929031
NM_001822.7(CHN1):c.60A>T (p.Leu20Phe) rs121912792
NM_001822.7(CHN1):c.628-14dup rs375494218
NM_001822.7(CHN1):c.628-15_628-14del rs547068631
NM_001822.7(CHN1):c.62A>G (p.Tyr21Cys)
NM_001822.7(CHN1):c.661T>C (p.Tyr221His)
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) rs1558939623
NM_001822.7(CHN1):c.668C>T (p.Ala223Val) rs121912795
NM_001822.7(CHN1):c.682G>A (p.Gly228Ser) rs121912796
NM_001822.7(CHN1):c.754C>T (p.Pro252Ser) rs387906600
NM_001822.7(CHN1):c.755C>A (p.Pro252Gln) rs121912797
NM_001822.7(CHN1):c.937G>A (p.Glu313Lys) rs121912798
NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)
NM_004522.3(KIF5C):c.2615C>T (p.Thr872Met)
NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys)
NM_005246.4(FER):c.1883C>T (p.Thr628Ile)
NM_005246.4(FER):c.1887A>C (p.Gln629His)
NM_005461.4(MAFB):c.(?_391)_*(390_?)del
NM_005461.5(MAFB):c.440del (p.Gly147fs) rs879255276
NM_005461.5(MAFB):c.526G>A (p.Ala176Thr) rs750186410
NM_005461.5(MAFB):c.644del (p.Gln215fs) rs879255277
NM_005461.5(MAFB):c.803del (p.Asn268fs) rs879255275
NM_005735.4(ACTR1B):c.1006C>G (p.Arg336Gly)
NM_005735.4(ACTR1B):c.633T>A (p.Phe211Leu)
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)
NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser)
NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)
NM_080425.4(GNAS):c.1717G>C (p.Asp573His)
NM_181552.4(CUX1):c.3760G>A (p.Glu1254Lys) rs1554534086
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
NM_181552.4(CUX1):c.691A>G (p.Met231Val)
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) rs886037741
NM_198721.4(COL25A1):c.1598del (p.Pro533fs)
NM_198721.4(COL25A1):c.672+1del rs2125927453
NM_198721.4:c.368-5122_708+6063del

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