ClinVar Miner

List of variants in gene BBS2 reported as benign for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_031885.3(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.3(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.3(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.3(BBS2):c.1659+3A>G rs6499838
NM_031885.3(BBS2):c.2079G>A (p.Gln693=) rs150797250
NM_031885.3(BBS2):c.367A>G (p.Ile123Val) rs11373
NM_031885.3(BBS2):c.612+12C>A rs77019529
NM_031885.3(BBS2):c.805-20A>G rs41280892
NM_031885.3(BBS2):c.865A>G (p.Ile289Val) rs150384293

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