ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 4 by Molecular Endocrinology Laboratory, Christian Medical College

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp)	rs727503820	0.00013
NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro)	rs569462424	0.00001
NM_033028.5(BBS4):c.1394A>G (p.Asn465Ser)	rs1214182249	0.00001

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