ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome 10 by Fulgent Genetics, Fulgent Genetics

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096 0.00039
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323 0.00032
NM_024685.4(BBS10):c.1923C>T (p.Pro641=) rs201449351 0.00015
NM_024685.4(BBS10):c.1050A>G (p.Pro350=) rs370953693 0.00014
NM_024685.4(BBS10):c.102G>T (p.Arg34=) rs376601112 0.00013
NM_024685.4(BBS10):c.27G>T (p.Gly9=) rs370213920 0.00012
NM_024685.4(BBS10):c.197+13C>G rs758349250 0.00004
NM_024685.4(BBS10):c.1287T>C (p.Asp429=) rs771468663 0.00003
NM_024685.4(BBS10):c.402A>G (p.Leu134=) rs762331843 0.00002
NM_024685.4(BBS10):c.637T>C (p.Leu213=) rs367795705 0.00002
NM_024685.4(BBS10):c.861A>G (p.Gln287=) rs753223078 0.00002
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253 0.00001
NM_024685.4(BBS10):c.6A>G (p.Leu2=) rs1333383849 0.00001
NM_024685.4(BBS10):c.1074G>T (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.648C>T (p.Asp216=) rs748037727

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