ClinVar Miner

Variants in gene BBS2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.-40T>C rs115078074 0.07623
NM_031885.5(BBS2):c.-42T>G rs78076550 0.07623
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.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
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.865A>G (p.Ile289Val) rs150384293 0.00113
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00049
NM_031885.5(BBS2):c.354T>C (p.Asp118=) rs142396287 0.00004
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758

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