ClinVar Miner

List of variants in gene BBS2 reported as likely pathogenic for Bardet-Biedl syndrome

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Total variants: 20
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HGVS dbSNP
GRCh38/hg38 16q13(chr16:56496014-56504285)
NM_031885.4(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.4(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) rs750506474
NM_031885.4(BBS2):c.345+5G>A rs1430976492
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.806T>G (p.Val269Gly) rs886039797
NM_031885.4(BBS2):c.941-2A>C rs878962682
NM_031885.4(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.5(BBS2):c.1080+2T>C
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
NM_031885.5(BBS2):c.1397+1G>A
NM_031885.5(BBS2):c.1398-2A>G
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
NM_031885.5(BBS2):c.612+1G>T
NM_031885.5(BBS2):c.718-2A>C
NM_031885.5(BBS2):c.804+1_804+14del
NM_031885.5(BBS2):c.941-1G>C

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