ClinVar Miner

List of variants in gene BBS10 studied for Retinal dystrophy

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.206T>A (p.Val69Glu) rs1176176320 0.00001
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604

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