ClinVar Miner

List of variants in gene ADSL reported as benign

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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.482+281T>C rs10854729 0.28881
NM_000026.4(ADSL):c.153+116A>G rs3788577 0.21169
NM_000026.4(ADSL):c.153+274T>C rs3788579 0.21162
NC_000022.11:g.40345499dup rs112981874 0.20978
NM_000026.4(ADSL):c.153+206C>T rs3788578 0.20967
NC_000022.11:g.40346413C>T rs909669 0.20928
NC_000022.11:g.40345636C>T rs2006965 0.20781
NM_000026.4(ADSL):c.483-41_483-38del rs3830737 0.16707
NM_000026.4(ADSL):c.793-49A>C rs8135371 0.12993
NM_000026.4(ADSL):c.1101+233A>G rs17001863 0.12034
NM_000026.4(ADSL):c.357+173C>T rs8192456 0.10529
NM_000026.4(ADSL):c.357+172T>C rs8192455 0.10294
NM_000026.4(ADSL):c.357+111T>C rs186758682 0.03459
NC_000022.11:g.40345817G>C rs9611320 0.03404
NM_000026.4(ADSL):c.701+113A>G rs73885691 0.03036
NM_000026.4(ADSL):c.402+281C>T rs12160297 0.03002
NM_000026.4(ADSL):c.1192-59T>G rs8142978 0.02879
NM_000026.4(ADSL):c.357+238A>G rs143135693 0.02608
NM_000026.4(ADSL):c.792+148A>C rs17001857 0.02425
NC_000022.11:g.40345516C>T rs751367 0.02165
NM_000026.4(ADSL):c.358-4G>A rs113199851 0.01800
NM_000026.4(ADSL):c.403-101C>T rs148116795 0.01584
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00938
NC_000022.11:g.40345588A>G rs3044499 0.00792
NC_000022.11:g.40345889C>T rs185968430 0.00234
NC_000022.11:g.40346058C>T rs79742008 0.00218
NM_000026.4(ADSL):c.1010+18A>G rs201019280 0.00157
NM_000026.4(ADSL):c.880T>C (p.Tyr294His) rs8192461 0.00121
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986 0.00110
NC_000022.11:g.40345988G>C rs576999610 0.00081
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_000026.4(ADSL):c.27G>T (p.Ser9=) rs146873132 0.00046
NM_000026.4(ADSL):c.702-7T>C rs201509960 0.00044
NM_000026.4(ADSL):c.363G>A (p.Leu121=) rs138203195 0.00036
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158 0.00024
NM_000026.4(ADSL):c.357+7G>A rs199993991 0.00019
NM_000026.4(ADSL):c.-23C>T rs201625622 0.00015
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255 0.00013
NM_000026.4(ADSL):c.567C>T (p.Val189=) rs765353500 0.00008
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) rs192303222 0.00007
NM_000026.4(ADSL):c.1102-18C>G rs764157832 0.00005
NM_000026.4(ADSL):c.1200T>C (p.His400=) rs751401941 0.00002
NC_000022.11:g.40345588_40345589insAAAAAAAGG rs377707583
NC_000022.11:g.40345588_40345589insAAAAG rs377707583
NC_000022.11:g.40345588_40345589insAG rs377707583
NC_000022.11:g.40345589G>A rs549370926
NC_000022.11:g.40345596_40345597dup rs1555903152
NC_000022.11:g.40345597del rs1555903152
NC_000022.11:g.40345614_40345615del rs140158876
NC_000022.11:g.40346474CCCCG[3] rs1237603952
NM_000026.4(ADSL):c.1011-5del rs1569101323
NM_000026.4(ADSL):c.1102-190dup rs397934210
NM_000026.4(ADSL):c.357+112dup rs373063501
NM_000026.4(ADSL):c.792+246dup rs11431892
NM_000026.4(ADSL):c.863-11dup rs762247753

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