ClinVar Miner

List of variants in gene BBS2 reported as likely benign for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_031885.3(BBS2):c.-199A>T rs569642995
NM_031885.3(BBS2):c.-239G>A rs2303284
NM_031885.4(BBS2):c.*13C>T rs141170836
NM_031885.4(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.4(BBS2):c.111G>A (p.Thr37=) rs191867233
NM_031885.4(BBS2):c.1134A>G (p.Pro378=) rs185178790
NM_031885.4(BBS2):c.1152C>T (p.His384=) rs774493134
NM_031885.4(BBS2):c.126T>G (p.Ile42Met) rs139945733
NM_031885.4(BBS2):c.1380C>T (p.Phe460=) rs141046144
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.1437T>C (p.Pro479=) rs747415803
NM_031885.4(BBS2):c.1523A>C (p.Gln508Pro) rs115328064
NM_031885.4(BBS2):c.1608A>G (p.Thr536=) rs778892001
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.1910+9T>G rs751604858
NM_031885.4(BBS2):c.30G>A (p.Leu10=) rs1258834563
NM_031885.4(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.4(BBS2):c.345+10A>G rs770249850
NM_031885.4(BBS2):c.472-10T>C rs138714256
NM_031885.4(BBS2):c.525A>G (p.Gly175=) rs34191306
NM_031885.4(BBS2):c.534+7G>C rs886052149
NM_031885.4(BBS2):c.537T>A (p.Leu179=) rs1450648224
NM_031885.4(BBS2):c.627T>C (p.Leu209=) rs752010652
NM_031885.4(BBS2):c.783A>C (p.Ile261=) rs183982328
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_031885.4(BBS2):c.870C>T (p.Ala290=) rs750516217
NM_031885.4(BBS2):c.984C>T (p.Leu328=) rs1285508370
NM_031885.4(BBS2):c.995G>A (p.Ser332Asn) rs199655331
NM_031885.5(BBS2):c.117G>C (p.Lys39Asn)

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