ClinVar Miner

List of variants in gene BBS2 reported by Broad Institute Rare Disease Group, Broad Institute

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_031885.4(BBS2):c.345+5G>A rs1430976492
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585

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