ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 by New York Genome Center

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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.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_018233.4(OGFOD1):c.1467+11_1467+13del
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018

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