ClinVar Miner

List of variants in gene BBS2 reported as likely pathogenic by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
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) rs2543709618
NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs) rs2543707890
NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs) rs2543707875
NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs) rs2543707814
NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs) rs2543707684
NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs) rs2543707534
NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter) rs1791390525
NM_031885.5(BBS2):c.1461del (p.Ser488fs) rs2543704416
NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs) rs2543704303
NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs) rs2543700164
NM_031885.5(BBS2):c.1700del (p.Ile567fs) rs2543698536
NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter) rs2543698377
NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter) rs1964154734
NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs) rs2543698172
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) rs2543741194
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) rs2543732310
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) rs2543721525
NM_031885.5(BBS2):c.691A>T (p.Lys231Ter) rs754487754
NM_031885.5(BBS2):c.721A>T (p.Lys241Ter) rs1964413369
NM_031885.5(BBS2):c.766G>T (p.Gly256Ter) rs886052147
NM_031885.5(BBS2):c.784dup (p.Thr262fs) rs2543720613
NM_031885.5(BBS2):c.802A>T (p.Lys268Ter) rs2543720549

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