ClinVar Miner

List of variants in gene BBS10 reported as likely pathogenic by Baylor Genetics

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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.198-1G>C rs1555202740 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_024685.4(BBS10):c.1076del (p.Gln359fs)
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs) rs1057517156
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs) rs1389599028
NM_024685.4(BBS10):c.1526_1527dup (p.Thr510fs)
NM_024685.4(BBS10):c.1554_1557del (p.Thr519fs)
NM_024685.4(BBS10):c.1606del (p.Tyr536fs)
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
NM_024685.4(BBS10):c.1654_1655del (p.Gly552fs)
NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs) rs1057516669
NM_024685.4(BBS10):c.1676del (p.Tyr559fs)
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
NM_024685.4(BBS10):c.171_174dup (p.His59fs)
NM_024685.4(BBS10):c.1724del (p.Pro575fs) rs1057516754
NM_024685.4(BBS10):c.1860dup (p.Cys621fs)
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter) rs768385647
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.2024dup (p.Thr676fs)
NM_024685.4(BBS10):c.2052del (p.Lys684fs) rs1951753726
NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs) rs1555202538
NM_024685.4(BBS10):c.214_215del (p.Val72fs) rs1057516861
NM_024685.4(BBS10):c.214_215dup (p.Ser73fs) rs1057516861
NM_024685.4(BBS10):c.22_35delinsTCAG (p.Ala8fs)
NM_024685.4(BBS10):c.235del (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.253del (p.Thr85fs)
NM_024685.4(BBS10):c.254_255insG (p.Phe86fs)
NM_024685.4(BBS10):c.330_331del (p.Cys110_Glu111delinsTer)
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter) rs1951771573
NM_024685.4(BBS10):c.461del (p.Leu154fs)
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)
NM_024685.4(BBS10):c.488_489del (p.Arg163fs)
NM_024685.4(BBS10):c.568_571del (p.Ile190fs) rs1057516266
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_024685.4(BBS10):c.641T>A (p.Val214Glu)
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter) rs775090151
NM_024685.4(BBS10):c.807dup (p.Thr270fs)
NM_024685.4(BBS10):c.844_845del (p.Gln282fs)
NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)
NM_024685.4(BBS10):c.899A>C (p.His300Pro)
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter) rs1592492255
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys) rs771325212
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter) rs1555202662
NM_024685.4(BBS10):c.992T>C (p.Val331Ala)
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)

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