ClinVar Miner

List of variants in gene SUFU studied for not specified

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.*20T>G rs4917980 0.99823
NM_016169.4(SUFU):c.1365+19T>C rs12414407 0.68248
NM_016169.4(SUFU):c.182+16C>T rs2274351 0.46492
NM_016169.4(SUFU):c.1299T>C (p.Ile433=) rs17114803 0.14628
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_016169.4(SUFU):c.1291T>C (p.Leu431=) rs141950577 0.00487
NM_016169.4(SUFU):c.210T>C (p.Tyr70=) rs35166585 0.00430
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr) rs34406289 0.00078
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys) rs36049457 0.00039
NM_016169.4(SUFU):c.318-17C>A rs201198734 0.00029
NM_016169.4(SUFU):c.1308C>T (p.Thr436=) rs142029957 0.00018
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser) rs143807689 0.00017
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_016169.4(SUFU):c.1245C>T (p.Gly415=) rs144158469 0.00011
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly) rs368178771 0.00009
NM_016169.4(SUFU):c.1028G>A (p.Arg343His) rs79299301 0.00008
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile) rs149449923 0.00006
NM_016169.4(SUFU):c.911-7G>A rs558661774 0.00006
NM_016169.4(SUFU):c.855C>T (p.Asp285=) rs200206997 0.00004
NM_016169.4(SUFU):c.807C>T (p.Val269=) rs919110211 0.00002
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu) rs587778699 0.00001
NM_016169.4(SUFU):c.1157+6C>T rs535323089 0.00001
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp) rs201326378 0.00001
NM_016169.4(SUFU):c.529A>G (p.Met177Val) rs758672583 0.00001
NM_016169.4(SUFU):c.683+17G>A rs1027742260 0.00001
NM_016169.4(SUFU):c.872T>C (p.Ile291Thr) rs587778698 0.00001
NM_016169.4(SUFU):c.518G>A (p.Arg173Lys) rs587778697

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