ClinVar Miner

List of variants in gene BBS2 reported as pathogenic for not provided

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Total variants: 7
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HGVS dbSNP
NM_031885.4(BBS2):c.1099dup (p.Leu367fs) rs797044632
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) rs750506474
NM_031885.4(BBS2):c.535-2A>G rs1555523398
NM_031885.4(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) rs121908177

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