ClinVar Miner

List of variants in gene SUFU studied for Joubert syndrome

Included ClinVar conditions (97):
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Total variants: 39
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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 0.68304
NM_016169.4(SUFU):c.182+16C>T rs2274351 0.46492
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00629
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.600C>T (p.Ile200=) rs149513330 0.00120
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu) rs765358771 0.00020
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00015
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met) rs368020224 0.00011
NM_016169.4(SUFU):c.1028G>A (p.Arg343His) rs79299301 0.00008
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly) rs368178771 0.00008
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile) rs149449923 0.00006
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln) rs141359583 0.00006
NM_016169.4(SUFU):c.169A>G (p.Ile57Val) rs377614167 0.00002
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 0.00002
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys) rs376797758 0.00002
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp) rs773037813 0.00001
NM_016169.4(SUFU):c.1157G>A (p.Arg386Lys) rs767814106 0.00001
NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr) rs1554854758 0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) rs778125780 0.00001
NM_016169.4(SUFU):c.1429G>A (p.Val477Met) rs1060501117 0.00001
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys) rs770989077 0.00001
NM_016169.4(SUFU):c.325G>A (p.Gly109Arg) rs192025919 0.00001
NM_016169.4(SUFU):c.529A>G (p.Met177Val) rs758672583 0.00001
NM_016169.4(SUFU):c.601G>A (p.Val201Ile) rs147695965 0.00001
NM_016169.4(SUFU):c.690C>T (p.Gly230=) rs775675385 0.00001
NM_016169.4(SUFU):c.750C>A (p.His250Gln) rs1235137905 0.00001
NM_016169.4(SUFU):c.1023-2A>T rs1060501105
NM_016169.4(SUFU):c.1085G>C (p.Arg362Pro)
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp) rs1305395503
NM_016169.4(SUFU):c.122GCC[2] (p.Arg43del)
NM_016169.4(SUFU):c.1295A>C (p.Gln432Pro) rs1213931205
NM_016169.4(SUFU):c.1365+5G>C rs2492837342
NM_016169.4(SUFU):c.1372C>A (p.Leu458Ile) rs2492850467
NM_016169.4(SUFU):c.164C>T (p.Thr55Ile)
NM_016169.4(SUFU):c.527A>G (p.His176Arg) rs1554852272
NM_016169.4(SUFU):c.664C>G (p.Leu222Val) rs765345575
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln) rs1403040084

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