ClinVar Miner

List of variants studied for Duane retraction syndrome

Included ClinVar conditions (6):
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ClinVar version:
Total variants: 71
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HGVS dbSNP
COL25A1, 12.4-KB DEL
NM_001822.7(CHN1):c.*154G>A rs529610497
NM_001822.7(CHN1):c.*198A>G
NM_001822.7(CHN1):c.*214dup rs574270883
NM_001822.7(CHN1):c.*252C>T
NM_001822.7(CHN1):c.*256C>T
NM_001822.7(CHN1):c.*28T>C rs143852940
NM_001822.7(CHN1):c.*309G>A
NM_001822.7(CHN1):c.*337G>C
NM_001822.7(CHN1):c.*422C>T
NM_001822.7(CHN1):c.*426C>T
NM_001822.7(CHN1):c.*52T>C
NM_001822.7(CHN1):c.*564G>A
NM_001822.7(CHN1):c.*608A>G rs886055153
NM_001822.7(CHN1):c.*635A>C
NM_001822.7(CHN1):c.*643A>T rs74780149
NM_001822.7(CHN1):c.*668T>C rs369718610
NM_001822.7(CHN1):c.*677G>A rs192645480
NM_001822.7(CHN1):c.*687_*691del rs886055152
NM_001822.7(CHN1):c.*734_*737del rs66480716
NM_001822.7(CHN1):c.*756C>T
NM_001822.7(CHN1):c.-104C>T rs886055156
NM_001822.7(CHN1):c.-160C>G rs572040045
NM_001822.7(CHN1):c.-206G>A
NM_001822.7(CHN1):c.-23G>T
NM_001822.7(CHN1):c.-271T>C rs543170770
NM_001822.7(CHN1):c.-298C>G rs879722535
NM_001822.7(CHN1):c.-353C>T
NM_001822.7(CHN1):c.-36C>T rs775399462
NM_001822.7(CHN1):c.-68G>A rs117866326
NM_001822.7(CHN1):c.-74C>T rs886055155
NM_001822.7(CHN1):c.1002A>G (p.Glu334=)
NM_001822.7(CHN1):c.1115C>T (p.Pro372Leu)
NM_001822.7(CHN1):c.1319A>G (p.Asp440Gly) rs369847378
NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr) rs552090021
NM_001822.7(CHN1):c.147-4T>G
NM_001822.7(CHN1):c.177C>T (p.Ala59=)
NM_001822.7(CHN1):c.193G>A (p.Val65Met)
NM_001822.7(CHN1):c.225C>G (p.Ser75Arg)
NM_001822.7(CHN1):c.237A>G (p.Pro79=) rs377261893
NM_001822.7(CHN1):c.297C>T (p.Tyr99=)
NM_001822.7(CHN1):c.378T>G (p.Ile126Met) rs121912793
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.500C>T (p.Thr167Ile) rs752956891
NM_001822.7(CHN1):c.550-4G>A
NM_001822.7(CHN1):c.588C>T (p.Asn196=) rs146313212
NM_001822.7(CHN1):c.60A>T (p.Leu20Phe) rs121912792
NM_001822.7(CHN1):c.628-14dup rs375494218
NM_001822.7(CHN1):c.628-15C>T rs529028832
NM_001822.7(CHN1):c.628-15_628-14del rs547068631
NM_001822.7(CHN1):c.661T>C (p.Tyr221His) rs1553475005
NM_001822.7(CHN1):c.668C>T (p.Ala223Val) rs121912795
NM_001822.7(CHN1):c.67C>T (p.Leu23=) rs371593822
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.7C>T (p.Leu3=)
NM_001822.7(CHN1):c.80C>G (p.Ala27Gly)
NM_001822.7(CHN1):c.886+15G>A rs12613075
NM_001822.7(CHN1):c.937G>A (p.Glu313Lys) rs121912798
NM_001822.7(CHN1):c.962G>C (p.Arg321Thr)
NM_001822.7(CHN1):c.964+6T>G rs764237103
NM_005461.4(MAFB):c.(?_391)_*(390_?)del
NM_005461.5(MAFB):c.440del (p.Gly147fs) rs879255276
NM_005461.5(MAFB):c.644del (p.Gln215fs) rs879255277
NM_005461.5(MAFB):c.803del (p.Asn268fs) rs879255275
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) rs780209390
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) rs886037741

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