ClinVar Miner

List of variants reported as uncertain significance for Duane retraction syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_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.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_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.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.193G>A (p.Val65Met) rs370140469 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
46;XY;t(16;20)(q11.2;q13.2)dn
NM_001822.7(CHN1):c.*214dup rs574270883
NM_001822.7(CHN1):c.*256C>T rs771199357
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.432G>C (p.Glu144Asp) rs886055154
NM_001822.7(CHN1):c.435C>T (p.His145=) rs527929031
NM_001822.7(CHN1):c.628-14dup rs375494218
NM_001822.7(CHN1):c.62A>G (p.Tyr21Cys)
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_005461.5(MAFB):c.526G>A (p.Ala176Thr) rs750186410
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)

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.