ClinVar Miner

List of variants in gene SETBP1 reported as uncertain significance for Schinzel-Giedion syndrome

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Gene type:
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Total variants: 56
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HGVS dbSNP
NM_015559.3(SETBP1):c.*1068G>C rs886053801
NM_015559.3(SETBP1):c.*1338C>A rs886053803
NM_015559.3(SETBP1):c.*1377G>A rs886053804
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.*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.*2437C>T rs886053808
NM_015559.3(SETBP1):c.*2900A>G rs376381081
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.*339C>G rs886053796
NM_015559.3(SETBP1):c.*3403C>T rs886053813
NM_015559.3(SETBP1):c.*3459G>A rs886053814
NM_015559.3(SETBP1):c.*3540G>A rs886053815
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.*456C>A rs886053797
NM_015559.3(SETBP1):c.*4648C>G rs886053820
NM_015559.3(SETBP1):c.*745dup rs368699262
NM_015559.3(SETBP1):c.*750G>T rs886053799
NM_015559.3(SETBP1):c.*919A>G rs886053800
NM_015559.3(SETBP1):c.-21C>T rs773733378
NM_015559.3(SETBP1):c.-241dup rs886053786
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.1137G>A (p.Glu379=) rs752828285
NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly) rs587784380
NM_015559.3(SETBP1):c.1263A>G (p.Arg421=) rs886053792
NM_015559.3(SETBP1):c.1503C>T (p.Pro501=) rs374300895
NM_015559.3(SETBP1):c.1552C>T (p.Leu518=) rs756912768
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) rs3744824
NM_015559.3(SETBP1):c.2358C>T (p.Ser786=) rs886053793
NM_015559.3(SETBP1):c.2948C>G (p.Pro983Arg) rs886053794
NM_015559.3(SETBP1):c.3561C>T (p.Ser1187=) rs138530624
NM_015559.3(SETBP1):c.3714C>T (p.Asp1238=) rs762207505
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.4187A>T (p.Lys1396Met) rs771262356
NM_015559.3(SETBP1):c.4204C>T (p.Arg1402Trp) rs761262114
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys) rs587784381
NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser) rs761385178
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.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

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