ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 7

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Total variants: 11
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NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs)
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs)
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.500_501insTATGAG (p.Gln168_Asp169insMetSer) rs1578564877
NM_176824.3(BBS7):c.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001

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