ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome 2 by Myriad Genetics, Inc.

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter) rs1192804794
NM_031885.5(BBS2):c.1088T>A (p.Leu363Ter)
NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs)
NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs)
NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs)
NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs)
NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs)
NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter) rs1791390525
NM_031885.5(BBS2):c.1461del (p.Ser488fs)
NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs)
NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs)
NM_031885.5(BBS2):c.1700del (p.Ile567fs)
NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter)
NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter) rs1964154734
NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs)
NM_031885.5(BBS2):c.217C>T (p.Gln73Ter) rs199940492
NM_031885.5(BBS2):c.289C>T (p.Gln97Ter) rs1964676925
NM_031885.5(BBS2):c.302T>A (p.Leu101Ter) rs1964676419
NM_031885.5(BBS2):c.309_310insCACA (p.Asp104fs)
NM_031885.5(BBS2):c.343G>T (p.Glu115Ter) rs1964674209
NM_031885.5(BBS2):c.437del (p.Gly146fs) rs1170844318
NM_031885.5(BBS2):c.491_501del (p.Asn164fs)
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.583G>T (p.Glu195Ter) rs1964531867
NM_031885.5(BBS2):c.619_620del (p.Thr207fs)
NM_031885.5(BBS2):c.691A>T (p.Lys231Ter)
NM_031885.5(BBS2):c.721A>T (p.Lys241Ter) rs1964413369
NM_031885.5(BBS2):c.766G>T (p.Gly256Ter)
NM_031885.5(BBS2):c.784dup (p.Thr262fs)
NM_031885.5(BBS2):c.802A>T (p.Lys268Ter)

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