ClinVar Miner

List of variants in gene BBS10 reported as uncertain significance for not provided

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln) rs201335653 0.00008
NM_024685.4(BBS10):c.2144A>G (p.His715Arg) rs769179905 0.00004
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803 0.00003
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro) rs759387000 0.00002
NM_024685.4(BBS10):c.1088C>T (p.Pro363Leu) rs938066133 0.00001
NM_024685.4(BBS10):c.411G>T (p.Gln137His) rs775342373 0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850 0.00001
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu) rs1000990130 0.00001
NM_024685.4(BBS10):c.1822A>G (p.Ile608Val) rs1057523787
NM_024685.4(BBS10):c.2123_2126delinsGGA (p.Lys708fs) rs1555202541
NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs) rs1555202538
NM_024685.4(BBS10):c.263T>C (p.Ile88Thr)
NM_024685.4(BBS10):c.290T>G (p.Leu97Arg) rs1565810252
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.742T>C (p.Tyr248His)
NM_024685.4(BBS10):c.901C>G (p.Leu301Val) rs1555202666

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