ClinVar Miner

List of variants in gene BBS12 reported as likely benign for Bardet-Biedl syndrome

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Total variants: 22
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HGVS dbSNP
NM_001178007.1(BBS12):c.-391C>T rs28642232
NM_152618.3(BBS12):c.*187dup rs386401352
NM_152618.3(BBS12):c.1011T>C (p.Val337=) rs762298486
NM_152618.3(BBS12):c.1185G>A (p.Leu395=) rs377611257
NM_152618.3(BBS12):c.1197C>T (p.His399=) rs764483162
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059
NM_152618.3(BBS12):c.1980G>A (p.Pro660=) rs778953866
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329
NM_152618.3(BBS12):c.21C>T (p.Val7=) rs754702110
NM_152618.3(BBS12):c.237C>T (p.Asn79=) rs373273487
NM_152618.3(BBS12):c.243T>C (p.Tyr81=) rs772942987
NM_152618.3(BBS12):c.60A>G (p.Ser20=) rs759975718
NM_152618.3(BBS12):c.63A>T (p.Ser21=) rs776279953
NM_152618.3(BBS12):c.66C>T (p.Phe22=) rs150546366
NM_152618.3(BBS12):c.75A>G (p.Thr25=) rs754811440
NM_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198

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