ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 4 by New York Genome Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.24+8C>T	rs200055760	0.00040
NM_033028.5(BBS4):c.864G>A (p.Ala288=)	rs141345544	0.00022
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)	rs769886837	0.00006
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr)	rs760437306	0.00004
NM_033028.5(BBS4):c.460-15T>A

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