ClinVar Miner

List of variants reported as likely pathogenic for Bardet-biedl syndrome 21 by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter)	rs751922029	0.00001
NM_177965.4(CFAP418):c.240del (p.Ser81fs)	rs1587357327

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