ClinVar Miner

List of variants in gene SETBP1 studied for Schinzel-Giedion syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=) rs8096662 0.90817
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861 0.54222
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile) rs3744825 0.10462
NM_015559.3(SETBP1):c.4000+10T>A rs3786177 0.10035
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr) rs1064204 0.09043
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016 0.00689
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_015559.3(SETBP1):c.1879C>T (p.Arg627Cys) rs146193261 0.00602
NM_015559.3(SETBP1):c.1170C>T (p.Ala390=) rs8091231 0.00482
NM_015559.3(SETBP1):c.1158C>T (p.Asn386=) rs73472918 0.00192
NM_015559.3(SETBP1):c.1483T>A (p.Ser495Thr) rs138515058 0.00184
NM_015559.3(SETBP1):c.3237T>C (p.Leu1079=) rs150875847 0.00122
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) rs3744824 0.00067
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735 0.00066
NM_015559.3(SETBP1):c.*3313A>C rs557394901 0.00053
NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His) rs149638556 0.00045
NM_015559.3(SETBP1):c.1581T>G (p.Ala527=) rs150136756 0.00036
NM_015559.3(SETBP1):c.141G>A (p.Gly47=) rs146868426 0.00025
NM_015559.3(SETBP1):c.3576C>T (p.Ser1192=) rs201826395 0.00023
NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met) rs563768215 0.00020
NM_015559.3(SETBP1):c.2310G>A (p.Ala770=) rs373845529 0.00019
NM_015559.3(SETBP1):c.*1377G>A rs886053804 0.00016
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys) rs587784381 0.00016
NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg) rs143196787 0.00012
NM_015559.3(SETBP1):c.2607C>T (p.Ser869=) rs74499808 0.00011
NM_015559.3(SETBP1):c.3681G>A (p.Glu1227=) rs377760121 0.00005
NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly) rs587784380 0.00004
NM_015559.3(SETBP1):c.1490C>T (p.Pro497Leu) rs145133915 0.00004
NM_015559.3(SETBP1):c.1503C>T (p.Pro501=) rs374300895 0.00004
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00003
NM_015559.3(SETBP1):c.3832C>G (p.Leu1278Val) rs751429016 0.00002
NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser) rs761385178 0.00002
NM_015559.3(SETBP1):c.1051G>T (p.Asp351Tyr) rs370610721 0.00001
NM_015559.3(SETBP1):c.165G>A (p.Met55Ile) rs778818507 0.00001
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln) rs775975116 0.00001
NM_015559.3(SETBP1):c.4209G>A (p.Glu1403=) rs565949588 0.00001
NM_015559.3(SETBP1):c.*1160del rs566863613
NM_015559.3(SETBP1):c.*1643_*1647del rs370951422
NM_015559.3(SETBP1):c.*2063_*2066del rs886053806
NM_015559.3(SETBP1):c.*2970_*2971insT rs886053809
NM_015559.3(SETBP1):c.*2971del rs886053810
NM_015559.3(SETBP1):c.*2987dup rs34125334
NM_015559.3(SETBP1):c.*2988del rs886053812
NM_015559.3(SETBP1):c.*4753del rs10715988
NM_015559.3(SETBP1):c.*745dup rs368699262
NM_015559.3(SETBP1):c.-241dup rs886053786
NM_015559.3(SETBP1):c.1821del (p.Ser608fs) rs797045952
NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)
NM_015559.3(SETBP1):c.2111C>T (p.Ala704Val) rs1599367870
NM_015559.3(SETBP1):c.2358C>T (p.Ser786=) rs886053793
NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr) rs2071362354
NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr) rs2145105580
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala) rs267607041
NM_015559.3(SETBP1):c.2607C>G (p.Ser869Arg)
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015559.3(SETBP1):c.2608G>T (p.Gly870Cys)
NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp) rs267607039
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038
NM_015559.3(SETBP1):c.2618C>G (p.Thr873Arg)
NM_015559.3(SETBP1):c.2825G>C (p.Arg942Pro)
NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys) rs2071375286
NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter) rs2071377438
NM_015559.3(SETBP1):c.2984C>T (p.Pro995Leu)
NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.4438G>A (p.Asp1480Asn)
NM_015559.3(SETBP1):c.4666A>C (p.Lys1556Gln)
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu) rs11082414

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.