ClinVar Miner

List of variants studied for Duane retraction syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP
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.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.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.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.67C>T (p.Leu23=) rs371593822
NM_001822.7(CHN1):c.7C>T (p.Leu3=)
NM_001822.7(CHN1):c.886+15G>A rs12613075
NM_001822.7(CHN1):c.964+6T>G rs764237103

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