ClinVar Miner

List of variants reported for Bardet-Biedl syndrome 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.48-2A>C	rs764245266	0.00001
NM_024649.5(BBS1):c.951+1G>C	rs746875134	0.00001

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