ClinVar Miner

List of variants studied for BBS2-related ciliopathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585 0.00002
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018

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