ClinVar Miner

List of variants in gene BBS10 reported by SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) rs199474722
NM_024685.4(BBS10):c.1227del (p.Gln409fs)
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)
NM_024685.4(BBS10):c.1527dup (p.Thr510fs)
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1702del (p.Thr568fs)
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.733T>G (p.Phe245Val)

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