ClinVar Miner

List of variants studied for Duane retraction syndrome 2

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Total variants: 60
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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_001822.7(CHN1):c.*337G>C rs996643545 0.00016
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_001822.7(CHN1):c.147-4T>G rs767192888 0.00003
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_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.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_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.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.62A>G (p.Tyr21Cys)
NM_001822.7(CHN1):c.661T>C (p.Tyr221His)
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

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