ClinVar Miner

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

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Total variants: 13
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NM_176824.3(BBS7):c.1060_1061TA[1] (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) rs991365297
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter)
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) rs863224529
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs) rs1553933472
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002
NM_176824.3(BBS7):c.710_711AG[1] (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs) rs1578577361

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