ClinVar Miner

List of variants in gene SUFU reported as pathogenic

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr) rs1554854758 0.00001
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter) rs1060501109 0.00001
NC_000010.10:g.(?_104263900)_(104389922_?)del
NC_000010.10:g.(?_104352329)_(104352491_?)del
NC_000010.10:g.(?_104352329)_(104353832_?)del
NC_000010.10:g.(?_104386922)_(104392580_?)del
NC_000010.11:(102444036_?)_(?_104726221)del
NC_000010.11:g.(?_102549960)_(102550116_?)del
NC_000010.11:g.(?_102593630)_(102597299_?)del
NM_016169.4(SUFU):c.1009del (p.His337fs) rs869300423
NM_016169.4(SUFU):c.1018del (p.Ala340fs) rs2135889203
NM_016169.4(SUFU):c.1022+1G>A rs587776578
NM_016169.4(SUFU):c.1022del (p.Pro341fs)
NM_016169.4(SUFU):c.1077del (p.Glu359fs) rs2135930082
NM_016169.4(SUFU):c.111del (p.Tyr38fs) rs863224925
NM_016169.4(SUFU):c.1123del (p.Gln375fs) rs2135930329
NM_016169.4(SUFU):c.1147_1150del (p.Leu383fs)
NM_016169.4(SUFU):c.1191del (p.Thr396_Tyr397insTer)
NM_016169.4(SUFU):c.1220_1221insT (p.Phe408fs) rs2063697672
NM_016169.4(SUFU):c.1246_1249dup (p.Phe417fs)
NM_016169.4(SUFU):c.124dup (p.Arg42fs) rs2062292476
NM_016169.4(SUFU):c.1290G>A (p.Trp430Ter) rs1590084324
NM_016169.4(SUFU):c.138_141del (p.Asp47fs)
NM_016169.4(SUFU):c.143dup (p.Pro49fs) rs1589970134
NM_016169.4(SUFU):c.157C>T (p.Gln53Ter) rs2135598685
NM_016169.4(SUFU):c.160del (p.Val54fs) rs2135598717
NM_016169.4(SUFU):c.171dup (p.Val58fs) rs1554840869
NM_016169.4(SUFU):c.175A>T (p.Lys59Ter) rs1564654588
NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)
NM_016169.4(SUFU):c.225del (p.Asn76fs)
NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)
NM_016169.4(SUFU):c.341del (p.Ser114fs) rs1060501108
NM_016169.4(SUFU):c.408G>A (p.Trp136Ter) rs2135743382
NM_016169.4(SUFU):c.454+1G>A rs1564676479
NM_016169.4(SUFU):c.479del (p.His160fs) rs2135866639
NM_016169.4(SUFU):c.527A>G (p.His176Arg) rs1554852272
NM_016169.4(SUFU):c.556C>T (p.Gln186Ter)
NM_016169.4(SUFU):c.576dup (p.Gly193fs) rs2135867295
NM_016169.4(SUFU):c.581del (p.Val194fs)
NM_016169.4(SUFU):c.585_586dup (p.Thr196fs) rs1554852279
NM_016169.4(SUFU):c.637C>T (p.Gln213Ter) rs907135467
NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)
NM_016169.4(SUFU):c.649_661del (p.Gln217fs) rs1590062899
NM_016169.4(SUFU):c.811_818dup (p.Cys273fs) rs2063471372
NM_016169.4(SUFU):c.824G>A (p.Trp275Ter) rs1564698683
NM_016169.4(SUFU):c.825G>A (p.Trp275Ter) rs1590065940
NM_016169.4(SUFU):c.846dup (p.Glu283fs) rs1477199832
NM_016169.4(SUFU):c.847dup (p.Glu283fs) rs2063472158
NM_016169.4(SUFU):c.859_863dup (p.Ser288fs) rs2135881899
NM_016169.4(SUFU):c.886C>T (p.Gln296Ter) rs2135882212
NM_016169.4(SUFU):c.892del (p.Arg298fs) rs2063473101
NM_016169.4(SUFU):c.893_894insTGCCCCG (p.Arg299fs) rs2135882232
NM_016169.4(SUFU):c.894dup (p.Arg299fs)
NM_016169.4(SUFU):c.895C>T (p.Arg299Ter) rs1590066162
NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs) rs1564698850
NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)
NM_016169.4(SUFU):c.934del (p.Thr311_Leu312insTer) rs2135888594

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