ClinVar Miner

List of variants in gene BBS7 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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NM_176824.3(BBS7):c.1060_1061TA[1] (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu) rs1221499782
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) rs991365297
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.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.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.710_711AG[1] (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001

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