ClinVar Miner

List of variants studied for Schinzel-Giedion syndrome by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 117
Download table as spreadsheet
HGVS dbSNP
NM_015559.3(SETBP1):c.*1068G>C rs886053801
NM_015559.3(SETBP1):c.*1160del rs566863613
NM_015559.3(SETBP1):c.*1163G>A rs368967558
NM_015559.3(SETBP1):c.*1338C>A rs886053803
NM_015559.3(SETBP1):c.*1377G>A rs886053804
NM_015559.3(SETBP1):c.*1533T>C rs192597791
NM_015559.3(SETBP1):c.*1536G>T rs765503009
NM_015559.3(SETBP1):c.*1549A>G rs886053805
NM_015559.3(SETBP1):c.*1643_*1647del rs370951422
NM_015559.3(SETBP1):c.*1817A>G rs9963575
NM_015559.3(SETBP1):c.*205C>G rs886053795
NM_015559.3(SETBP1):c.*2063_*2066del rs886053806
NM_015559.3(SETBP1):c.*2188G>A rs868033399
NM_015559.3(SETBP1):c.*2244C>T rs886053807
NM_015559.3(SETBP1):c.*2259A>T rs1349385
NM_015559.3(SETBP1):c.*2405T>C rs149990348
NM_015559.3(SETBP1):c.*2414C>G rs373681388
NM_015559.3(SETBP1):c.*2437C>T rs886053808
NM_015559.3(SETBP1):c.*2688A>G rs568234066
NM_015559.3(SETBP1):c.*2791A>G rs142310022
NM_015559.3(SETBP1):c.*2884C>T rs112813646
NM_015559.3(SETBP1):c.*2900A>G rs376381081
NM_015559.3(SETBP1):c.*2901A>C rs7244247
NM_015559.3(SETBP1):c.*2966del rs777732826
NM_015559.3(SETBP1):c.*2970_*2971insT rs886053809
NM_015559.3(SETBP1):c.*2971del rs886053810
NM_015559.3(SETBP1):c.*2987del rs34125334
NM_015559.3(SETBP1):c.*2987dup rs34125334
NM_015559.3(SETBP1):c.*2988del rs886053812
NM_015559.3(SETBP1):c.*3179G>A rs72898811
NM_015559.3(SETBP1):c.*3288C>G rs146961449
NM_015559.3(SETBP1):c.*3313A>C rs557394901
NM_015559.3(SETBP1):c.*339C>G rs886053796
NM_015559.3(SETBP1):c.*3403C>T rs886053813
NM_015559.3(SETBP1):c.*3434T>C rs148016914
NM_015559.3(SETBP1):c.*3459G>A rs886053814
NM_015559.3(SETBP1):c.*3540G>A rs886053815
NM_015559.3(SETBP1):c.*3573G>A rs566520020
NM_015559.3(SETBP1):c.*3676C>T rs117464906
NM_015559.3(SETBP1):c.*3829C>T rs141617886
NM_015559.3(SETBP1):c.*3833C>G rs181283064
NM_015559.3(SETBP1):c.*3839A>T rs560511856
NM_015559.3(SETBP1):c.*3884T>G rs117797575
NM_015559.3(SETBP1):c.*4010C>T rs150522461
NM_015559.3(SETBP1):c.*4100G>A rs886053816
NM_015559.3(SETBP1):c.*4204A>G rs886053817
NM_015559.3(SETBP1):c.*4205C>T rs886053818
NM_015559.3(SETBP1):c.*4237C>A rs143072709
NM_015559.3(SETBP1):c.*4240T>C rs569151004
NM_015559.3(SETBP1):c.*4259A>T rs567262571
NM_015559.3(SETBP1):c.*4266dup rs536376470
NM_015559.3(SETBP1):c.*4510T>C rs76077260
NM_015559.3(SETBP1):c.*456C>A rs886053797
NM_015559.3(SETBP1):c.*4648C>G rs886053820
NM_015559.3(SETBP1):c.*4753del rs10715988
NM_015559.3(SETBP1):c.*745dup rs368699262
NM_015559.3(SETBP1):c.*750G>T rs886053799
NM_015559.3(SETBP1):c.*813C>G rs7233404
NM_015559.3(SETBP1):c.*919A>G rs886053800
NM_015559.3(SETBP1):c.-164C>G rs145284354
NM_015559.3(SETBP1):c.-21C>T rs773733378
NM_015559.3(SETBP1):c.-241dup rs886053786
NM_015559.3(SETBP1):c.-248G>T rs563748893
NM_015559.3(SETBP1):c.-293T>C rs775939408
NM_015559.3(SETBP1):c.-36C>T rs886053787
NM_015559.3(SETBP1):c.1032T>A (p.Ser344Arg) rs886053791
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935
NM_015559.3(SETBP1):c.1137G>A (p.Glu379=) rs752828285
NM_015559.3(SETBP1):c.1158C>T (p.Asn386=) rs73472918
NM_015559.3(SETBP1):c.1170C>T (p.Ala390=) rs8091231
NM_015559.3(SETBP1):c.1263A>G (p.Arg421=) rs886053792
NM_015559.3(SETBP1):c.141G>A (p.Gly47=) rs146868426
NM_015559.3(SETBP1):c.1483T>A (p.Ser495Thr) rs138515058
NM_015559.3(SETBP1):c.1490C>T (p.Pro497Leu) rs145133915
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616
NM_015559.3(SETBP1):c.1552C>T (p.Leu518=) rs756912768
NM_015559.3(SETBP1):c.1581T>G (p.Ala527=) rs150136756
NM_015559.3(SETBP1):c.1828G>A (p.Val610Ile) rs200927313
NM_015559.3(SETBP1):c.1879C>T (p.Arg627Cys) rs146193261
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) rs3744824
NM_015559.3(SETBP1):c.2310G>A (p.Ala770=) rs373845529
NM_015559.3(SETBP1):c.2358C>T (p.Ser786=) rs886053793
NM_015559.3(SETBP1):c.2607C>T (p.Ser869=) rs74499808
NM_015559.3(SETBP1):c.2873A>G (p.Glu958Gly) rs748289164
NM_015559.3(SETBP1):c.2948C>G (p.Pro983Arg) rs886053794
NM_015559.3(SETBP1):c.3237T>C (p.Leu1079=) rs150875847
NM_015559.3(SETBP1):c.3299A>G (p.His1100Arg) rs149162154
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile) rs3744825
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr) rs1064204
NM_015559.3(SETBP1):c.3561C>T (p.Ser1187=) rs138530624
NM_015559.3(SETBP1):c.3576C>T (p.Ser1192=) rs201826395
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016
NM_015559.3(SETBP1):c.3681G>A (p.Glu1227=) rs377760121
NM_015559.3(SETBP1):c.3714C>T (p.Asp1238=) rs762207505
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met) rs563768215
NM_015559.3(SETBP1):c.4000+10T>A rs3786177
NM_015559.3(SETBP1):c.4073T>C (p.Met1358Thr) rs569465675
NM_015559.3(SETBP1):c.4096G>A (p.Ala1366Thr) rs145549368
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617
NM_015559.3(SETBP1):c.4187A>T (p.Lys1396Met) rs771262356
NM_015559.3(SETBP1):c.4204C>T (p.Arg1402Trp) rs761262114
NM_015559.3(SETBP1):c.4209G>A (p.Glu1403=) rs565949588
NM_015559.3(SETBP1):c.4234C>A (p.Arg1412=) rs145996171
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861
NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg) rs143196787
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu) rs11082414
NM_015559.3(SETBP1):c.812G>C (p.Gly271Ala) rs749422908
NM_015559.3(SETBP1):c.816C>T (p.Asn272=) rs886053788
NM_015559.3(SETBP1):c.839A>G (p.Asn280Ser) rs760239764
NM_015559.3(SETBP1):c.85G>A (p.Ala29Thr) rs772172102
NM_015559.3(SETBP1):c.874T>A (p.Ser292Thr) rs886053789
NM_015559.3(SETBP1):c.921G>T (p.Glu307Asp) rs886053790
NM_015559.3(SETBP1):c.969G>A (p.Lys323=) rs138913968

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.