ClinVar Miner

List of variants in gene BBS1 reported as uncertain significance for Bardet-Biedl syndrome

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Total variants: 22
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NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837
NM_024649.5(BBS1):c.175C>G (p.Leu59Val)
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg)
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
NM_024649.5(BBS1):c.230T>C (p.Met77Thr)
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu)
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr)
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) rs759253107
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)
NM_024649.5(BBS1):c.569A>T (p.Lys190Met) rs778672601
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser)
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)
NM_024649.5(BBS1):c.77C>T (p.Ala26Val)

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