ClinVar Miner

List of variants in gene BBS7 reported as pathogenic for Bardet-Biedl syndrome 7

Included ClinVar conditions (1):
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002 0.00006
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr) rs727503821 0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_176824.3(BBS7):c.1002del (p.Asn335fs) rs762782183
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter) rs1726067442
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs) rs1725961307
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs) rs1725388372
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) rs878853352
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.288_289del (p.Gly97fs)
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.500_501insTATGAG (p.Cys167_Gln168insMetSer) rs1578564877
NM_176824.3(BBS7):c.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg) rs1726157542
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207

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