ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome 2

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Total variants: 32
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HGVS dbSNP
NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.4(BBS2):c.1081-1G>T rs1555522000
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_031885.4(BBS2):c.1438C>T (p.Arg480Ter) rs778090540
NM_031885.4(BBS2):c.1780C>T (p.Arg594Ter) rs762047808
NM_031885.4(BBS2):c.1797+1G>A rs1555521489
NM_031885.4(BBS2):c.1814C>G (p.Ser605Ter) rs201063733
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.4(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.4(BBS2):c.1911-1G>A rs1555520256
NM_031885.4(BBS2):c.1946_1952del (p.Asp649fs) rs745951028
NM_031885.4(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.4(BBS2):c.2038C>T (p.Gln680Ter) rs1555520220
NM_031885.4(BBS2):c.2060-1G>T rs1555520142
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_031885.4(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.4(BBS2):c.324_343del (p.Asn108fs) rs1555523964
NM_031885.4(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.4(BBS2):c.471+1G>A rs1555523584
NM_031885.4(BBS2):c.534+1G>T rs773862084
NM_031885.4(BBS2):c.55del (p.Val19fs) rs1555524593
NM_031885.4(BBS2):c.563del (p.Ile188fs) rs1367927635
NM_031885.4(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.4(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.4(BBS2):c.717+1G>A rs1047075022
NM_031885.4(BBS2):c.717+2T>G rs1555522893
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.4(BBS2):c.918_919dup (p.Cys307fs) rs1555522252
NM_031885.4(BBS2):c.940+1del rs746171104
NM_031885.4(BBS2):c.941-1G>T rs777234811
NM_031885.4(BBS2):c.941-2A>C rs878962682

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