ClinVar Miner

List of variants in gene BBS10 reported by Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp) rs1363498219
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser) rs1565810301
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.559_561del (p.His187del) rs781421232
NM_024685.4(BBS10):c.724del (p.Gln242fs) rs1565809995
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671

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