ClinVar Miner

List of variants reported as uncertain significance for Duane retraction syndrome

Included ClinVar conditions (9):
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Minimum conflict level:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_001822.7(CHN1):c.*564G>A rs144057045 0.00155
NM_001822.7(CHN1):c.588C>T (p.Asn196=) rs146313212 0.00069
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_005461.5(MAFB):c.886G>A (p.Val296Ile) rs200660283 0.00013
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.500C>T (p.Thr167Ile) rs752956891 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_005461.5(MAFB):c.393C>A (p.His131Gln) rs121912307 0.00004
NM_001822.7(CHN1):c.147-4T>G rs767192888 0.00003
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln) rs752452409 0.00003
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser) rs761504648 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.1319A>G (p.Asp440Gly) rs369847378 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_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.-353C>T rs1692031513 0.00001
NM_001822.7(CHN1):c.193G>A (p.Val65Met) rs370140469 0.00001
NM_001822.7(CHN1):c.361T>G (p.Leu121Val) rs1301608361 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_004522.3(KIF5C):c.2615C>T (p.Thr872Met) rs768689068 0.00001
NM_005246.4(FER):c.1887A>C (p.Gln629His) rs2534099223 0.00001
NM_005461.5(MAFB):c.125C>T (p.Pro42Leu) rs1290466873 0.00001
NM_005461.5(MAFB):c.227C>A (p.Thr76Asn) rs138989733 0.00001
NM_005461.5(MAFB):c.405T>A (p.His135Gln) rs371814365 0.00001
NM_005461.5(MAFB):c.457G>C (p.Asp153His) rs893483748 0.00001
NM_005461.5(MAFB):c.863C>T (p.Ala288Val) rs746015339 0.00001
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu) rs764628148 0.00001
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val) rs368394580 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.225C>G (p.Ser75Arg) rs1452850610
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) rs2469191562
NM_001822.7(CHN1):c.754C>T (p.Pro252Ser) rs387906600
NM_001822.7(CHN1):c.780G>T (p.Lys260Asn)
NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr) rs2135916641
NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys) rs1170867093
NM_005246.4(FER):c.1883C>T (p.Thr628Ile) rs2534099165
NM_005461.5(MAFB):c.106C>G (p.Leu36Val)
NM_005461.5(MAFB):c.112C>G (p.Arg38Gly)
NM_005461.5(MAFB):c.127G>A (p.Gly43Ser)
NM_005461.5(MAFB):c.136T>G (p.Cys46Gly)
NM_005461.5(MAFB):c.19A>C (p.Met7Leu)
NM_005461.5(MAFB):c.22G>C (p.Gly8Arg)
NM_005461.5(MAFB):c.252T>G (p.Asp84Glu)
NM_005461.5(MAFB):c.392A>C (p.His131Pro)
NM_005461.5(MAFB):c.445G>A (p.Gly149Ser)
NM_005461.5(MAFB):c.526G>A (p.Ala176Thr) rs750186410
NM_005461.5(MAFB):c.529G>T (p.Ala177Ser)
NM_005461.5(MAFB):c.539C>A (p.Ala180Glu)
NM_005461.5(MAFB):c.62T>C (p.Val21Ala)
NM_005461.5(MAFB):c.769T>A (p.Tyr257Asn)
NM_005461.5(MAFB):c.847G>C (p.Glu283Gln)
NM_005461.5(MAFB):c.865C>A (p.Arg289Ser)
NM_005461.5(MAFB):c.961T>C (p.Phe321Leu)
NM_005461.5(MAFB):c.970T>C (p.Ter324Arg)
NM_005735.4(ACTR1B):c.1006C>G (p.Arg336Gly) rs1398677547
NM_005735.4(ACTR1B):c.633T>A (p.Phe211Leu) rs1674916713
NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser) rs902561974
NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln) rs1935946242
NM_080425.4(GNAS):c.1717G>C (p.Asp573His) rs2086397760
NM_181552.4(CUX1):c.3760G>A (p.Glu1254Lys) rs1554534086
NM_181552.4(CUX1):c.691A>G (p.Met231Val) rs2484681275
NM_198721.4(COL25A1):c.1450A>G (p.Lys484Glu)
NM_198721.4(COL25A1):c.1585G>A (p.Gly529Ser) rs2476579661
NM_198721.4(COL25A1):c.1923+5A>G

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