ClinVar Miner

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

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_031885.5(BBS2):c.1112del (p.Asp371fs) rs1472488128 0.00001
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs) rs745951028 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter)
NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter) rs1192804794
NM_031885.5(BBS2):c.1099dup (p.Leu367fs) rs797044632
NM_031885.5(BBS2):c.1163C>G (p.Ser388Ter)
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs) rs1964269329
NM_031885.5(BBS2):c.118-2A>C
NM_031885.5(BBS2):c.1225+2T>C
NM_031885.5(BBS2):c.1225+2T>G
NM_031885.5(BBS2):c.1225+2dup
NM_031885.5(BBS2):c.1269del (p.Phe423fs)
NM_031885.5(BBS2):c.1290dup (p.His431fs) rs777420525
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
NM_031885.5(BBS2):c.1355del (p.Pro452fs)
NM_031885.5(BBS2):c.1397+2T>C
NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs)
NM_031885.5(BBS2):c.157del (p.Ser53fs)
NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter)
NM_031885.5(BBS2):c.1725dup (p.Ala576fs)
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs) rs1964155109
NM_031885.5(BBS2):c.1794dup (p.Lys599Ter)
NM_031885.5(BBS2):c.1843dup (p.Ala615fs) rs1199538371
NM_031885.5(BBS2):c.184dup (p.Leu62fs)
NM_031885.5(BBS2):c.1910+1G>A
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.1944T>A (p.Tyr648Ter)
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter) rs1555520220
NM_031885.5(BBS2):c.2059+1del
NM_031885.5(BBS2):c.2077del (p.Gln693fs)
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.5(BBS2):c.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)
NM_031885.5(BBS2):c.284_285del (p.Gly95fs)
NM_031885.5(BBS2):c.289C>T (p.Gln97Ter) rs1964676925
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter) rs181736797
NM_031885.5(BBS2):c.346-1G>C
NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs)
NM_031885.5(BBS2):c.406dup (p.Ala136fs)
NM_031885.5(BBS2):c.440del (p.Phe147fs) rs1433422530
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.534+2T>C
NM_031885.5(BBS2):c.535-1G>A
NM_031885.5(BBS2):c.559dup (p.Asp187fs)
NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)
NM_031885.5(BBS2):c.718-2A>C rs1964413705
NM_031885.5(BBS2):c.791G>A (p.Trp264Ter)
NM_031885.5(BBS2):c.940+1G>A
NM_031885.5(BBS2):c.941-1G>A
NM_031885.5(BBS2):c.975_985del (p.Arg325fs)

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