ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 by New York Genome Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)	rs181107019	0.00006
NM_018233.4(OGFOD1):c.1467+11_1467+13del
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro)	rs1597020018

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