ClinVar Miner

List of variants in gene BBS2 reported as likely benign for Bardet-Biedl syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.718-34G>A rs79900021 0.03789
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_031885.5(BBS2):c.*13C>T rs141170836 0.00607
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_031885.5(BBS2):c.1380C>T (p.Phe460=) rs141046144 0.00086
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro) rs115328064 0.00068
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00049
NM_031885.5(BBS2):c.525A>G (p.Gly175=) rs34191306 0.00045
NM_031885.5(BBS2):c.534+20T>C rs369579609 0.00027
NM_031885.5(BBS2):c.1623C>T (p.Gly541=) rs143951580 0.00026
NM_031885.5(BBS2):c.1080+14C>T rs375468475 0.00024
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 0.00024
NM_031885.5(BBS2):c.471+17A>G rs200587401 0.00018
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00012
NM_031885.5(BBS2):c.612+18G>A rs200364314 0.00009
NM_031885.5(BBS2):c.1528-15G>T rs368282063 0.00008
NM_031885.5(BBS2):c.1797+13G>A rs769739310 0.00006
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_031885.5(BBS2):c.612+17C>T rs745726316 0.00003
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=) rs886052144 0.00002
NM_031885.5(BBS2):c.382T>C (p.Leu128=) rs374060552 0.00002
NM_031885.5(BBS2):c.819T>C (p.Ser273=) rs550992948 0.00002
NM_031885.5(BBS2):c.941-11C>T rs763441369 0.00002
NM_031885.5(BBS2):c.941-6G>A rs746397118 0.00002
NM_031885.3(BBS2):c.-199A>T rs569642995 0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_031885.5(BBS2):c.117+17G>T rs201119943 0.00001
NM_031885.5(BBS2):c.1530T>G (p.Val510=) rs545597883 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_031885.5(BBS2):c.612+14C>G rs770986334 0.00001
NM_031885.5(BBS2):c.810T>C (p.Asp270=) rs1309546092 0.00001
NM_031885.5(BBS2):c.117+7G>A rs780862523
NM_031885.5(BBS2):c.117G>C (p.Lys39Asn) rs755877218
NM_031885.5(BBS2):c.1413A>G (p.Val471=) rs35294865
NM_031885.5(BBS2):c.1845T>C (p.Ala615=) rs1964133464
NM_031885.5(BBS2):c.2059+12_2059+13del rs746917866
NM_031885.5(BBS2):c.216C>T (p.Asn72=) rs375853147
NM_031885.5(BBS2):c.342A>G (p.Arg114=) rs2144192731
NM_031885.5(BBS2):c.941-8C>G rs373354290
NM_031885.5(BBS2):c.984C>T (p.Leu328=) rs1285508370

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