ClinVar Miner

List of variants studied for Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016 0.00671
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00040
NM_015559.3(SETBP1):c.2934C>T (p.His978=) rs145566816 0.00029
NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile) rs370618204 0.00019
NM_015559.3(SETBP1):c.540+7444C>T rs751039254 0.00012
NM_015559.3(SETBP1):c.1490C>T (p.Pro497Leu) rs145133915 0.00004
NM_015559.3(SETBP1):c.3802G>A (p.Gly1268Arg) rs748393505 0.00003
NM_015559.3(SETBP1):c.655C>T (p.His219Tyr) rs556231993 0.00003
NM_015559.3(SETBP1):c.1814C>A (p.Thr605Asn) rs945207649 0.00002
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042 0.00001
NM_015559.3(SETBP1):c.3632A>G (p.Lys1211Arg) rs144471715 0.00001
NM_015559.3(SETBP1):c.1058_1059delinsTC (p.Asp353Val) rs2145095402
NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs) rs2511467580
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) rs1568235086
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.2322A>G (p.Ala774=) rs2145104146
NM_015559.3(SETBP1):c.2447C>A (p.Thr816Asn) rs779562371
NM_015559.3(SETBP1):c.2621ACA[2] (p.Asn876del) rs755486319
NM_015559.3(SETBP1):c.2903G>A (p.Arg968Lys)
NM_015559.3(SETBP1):c.3022C>G (p.Arg1008Gly) rs776187085
NM_015559.3(SETBP1):c.3256A>G (p.Met1086Val)
NM_015559.3(SETBP1):c.4572_4578del (p.Pro1525fs) rs1568058985
NM_015559.3(SETBP1):c.540+1G>A
NM_015559.3(SETBP1):c.540+7363G>T
NM_015559.3(SETBP1):c.540+7390C>T
NM_015559.3(SETBP1):c.540+7438A>G
NM_015559.3(SETBP1):c.812G>A (p.Gly271Glu) rs749422908

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