ClinVar Miner

List of variants in gene BBS2 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 4
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HGVS dbSNP
NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) rs750506474
NM_031885.4(BBS2):c.413T>G (p.Ile138Ser) rs1386789664
NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) rs121908177
NM_031885.5(BBS2):c.534+2dup

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