ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome 4

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.712-17C>G rs150754122 0.01051
NM_033028.5(BBS4):c.*43G>T rs144706746 0.00421
NM_033028.5(BBS4):c.*691G>A rs192812230 0.00074
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_033028.5(BBS4):c.460-20T>C rs200203402 0.00048
NM_033028.5(BBS4):c.157-19A>G rs373166573 0.00046
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_033028.5(BBS4):c.24+18C>G rs368789560 0.00034
NM_033028.5(BBS4):c.1107-11G>C rs373344695 0.00020
NM_033028.5(BBS4):c.643-6T>C rs753675755 0.00006
NM_033028.5(BBS4):c.1170C>T (p.Asn390=) rs376378002 0.00005
NM_033028.5(BBS4):c.76+18dup rs745516764 0.00005
NM_033028.5(BBS4):c.1311C>G (p.Thr437=) rs945847885 0.00004
NM_033028.5(BBS4):c.501C>T (p.His167=) rs745789574 0.00004
NM_033028.5(BBS4):c.712-14T>A rs375598833 0.00004
NM_033028.5(BBS4):c.928T>C (p.Leu310=) rs375714932 0.00003
NM_033028.5(BBS4):c.*522A>G rs531501103 0.00001
NM_033028.5(BBS4):c.408G>A (p.Glu136=) rs201881253 0.00001
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.712-15G>C rs2065814889
NM_033028.5(BBS4):c.943T>C (p.Leu315=) rs1433729329

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