ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP
NM_031885.3(BBS2):c.-199A>T rs569642995
NM_031885.4(BBS2):c.*13C>T rs141170836
NM_031885.4(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.4(BBS2):c.1134A>G (p.Pro378=) rs185178790
NM_031885.4(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.1910+9T>G rs751604858
NM_031885.4(BBS2):c.382T>C (p.Leu128=) rs374060552
NM_031885.4(BBS2):c.525A>G (p.Gly175=) rs34191306
NM_031885.4(BBS2):c.534+7G>C rs886052149
NM_031885.4(BBS2):c.744T>C (p.His248=) rs186893286
NM_031885.4(BBS2):c.984C>T (p.Leu328=) rs1285508370
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)
NM_031885.5(BBS2):c.117G>C (p.Lys39Asn)
NM_031885.5(BBS2):c.327G>A rs770497817

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