ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 78
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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.1170C>T (p.Ala390=) rs8091231 0.00482
NM_015559.3(SETBP1):c.1158C>T (p.Asn386=) rs73472918 0.00192
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.2934C>T (p.His978=) rs145566816 0.00029
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.2062G>A (p.Val688Ile) rs370618204 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.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.1058_1059delinsTC (p.Asp353Val) rs2145095402
NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) rs1568235086
NM_015559.3(SETBP1):c.1814C>A (p.Thr605Asn)
NM_015559.3(SETBP1):c.1821del (p.Ser608fs) rs797045952
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) rs606231272
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) rs606231273
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.2447C>A (p.Thr816Asn) rs779562371
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.2609G>A (p.Gly870Asp) rs267607039
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038
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.3022C>G (p.Arg1008Gly) rs776187085
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
NM_015559.3(SETBP1):c.812G>A (p.Gly271Glu) rs749422908

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