ClinVar Miner

List of variants in gene BBS2 reported as uncertain significance by Counsyl

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Total variants: 24
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HGVS dbSNP
NM_031885.3(BBS2):c.1528_1539del12 (p.Val510_Trp513del) rs1555521575
NM_031885.4(BBS2):c.1046T>G (p.Leu349Trp) rs752280639
NM_031885.4(BBS2):c.118G>T (p.Val40Phe) rs886043059
NM_031885.4(BBS2):c.1207C>T (p.Arg403Cys) rs766873519
NM_031885.4(BBS2):c.1523A>C (p.Gln508Pro) rs115328064
NM_031885.4(BBS2):c.1662C>G (p.Ile554Met) rs774112668
NM_031885.4(BBS2):c.1885G>A (p.Glu629Lys) rs746505864
NM_031885.4(BBS2):c.1891G>A (p.Ala631Thr) rs771822557
NM_031885.4(BBS2):c.1928G>A (p.Arg643His) rs532361142
NM_031885.4(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.4(BBS2):c.2143C>T (p.Arg715Ter) rs1555520107
NM_031885.4(BBS2):c.2166G>C (p.Ter722Tyr) rs1555520101
NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) rs750506474
NM_031885.4(BBS2):c.334T>C (p.Phe112Leu) rs772864503
NM_031885.4(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.471G>A (p.Thr157=) rs749983428
NM_031885.4(BBS2):c.691A>G (p.Lys231Glu) rs754487754
NM_031885.4(BBS2):c.730_732del (p.Ala244del) rs1171314440
NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.4(BBS2):c.86C>T (p.Pro29Leu) rs771211831
NM_031885.4(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.4(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) rs797045155

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