ClinVar Miner

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

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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NM_031885.3(BBS2):c.-191G>T rs16964239
NM_031885.3(BBS2):c.-225C>T rs117744577
NM_031885.3(BBS2):c.-239G>A rs2303284
NM_031885.4(BBS2):c.*13C>T rs141170836
NM_031885.4(BBS2):c.-137C>G rs77438708
NM_031885.4(BBS2):c.-40T>C rs115078074
NM_031885.4(BBS2):c.-42T>G rs78076550
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.1910+9T>G rs751604858
NM_031885.4(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.4(BBS2):c.345+10A>G rs770249850
NM_031885.4(BBS2):c.534+7G>C rs886052149
NM_031885.4(BBS2):c.612+12C>A rs77019529
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_031885.4(BBS2):c.865A>G (p.Ile289Val) rs150384293

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