ClinVar Miner

List of variants in gene BBS2 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 35
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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.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_031885.5(BBS2):c.612+42T>C rs191207351 0.00718
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro) rs115328064 0.00068
NM_031885.5(BBS2):c.126T>G (p.Ile42Met) rs139945733 0.00061
NM_031885.5(BBS2):c.-2T>G rs111296910 0.00029
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00012
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_031885.5(BBS2):c.117+27C>T rs369575291 0.00008
NM_031885.5(BBS2):c.1152C>T (p.His384=) rs774493134 0.00005
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_031885.5(BBS2):c.117+10C>T rs376041093 0.00003
NM_031885.5(BBS2):c.1284C>T (p.His428=) rs757521927 0.00003
NM_031885.5(BBS2):c.1878C>T (p.Val626=) rs555264290 0.00003
NM_031885.5(BBS2):c.1456C>T (p.Leu486=) rs780493609 0.00002
NM_031885.5(BBS2):c.1458G>A (p.Leu486=) rs756379392 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.117+5C>T rs1460934723 0.00001
NM_031885.5(BBS2):c.1326C>T (p.Cys442=) rs1478971000 0.00001
NM_031885.5(BBS2):c.1608A>G (p.Thr536=) rs778892001 0.00001
NM_031885.5(BBS2):c.2059+7C>G rs113740983 0.00001
NM_031885.5(BBS2):c.603A>C (p.Thr201=) rs768647514 0.00001
NM_031885.5(BBS2):c.718-3C>T rs779134746 0.00001
NM_031885.5(BBS2):c.963G>A (p.Thr321=) rs748014865 0.00001
NM_031885.5(BBS2):c.117+7G>A rs780862523
NM_031885.5(BBS2):c.1752G>A (p.Ala584=)
NM_031885.5(BBS2):c.2106T>C (p.Ile702=) rs1314393067
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.5(BBS2):c.472-8A>G
NM_031885.5(BBS2):c.804+6T>A
NM_031885.5(BBS2):c.805-9T>C

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