ClinVar Miner

List of variants in gene BBS4 studied for Bardet-Biedl syndrome 4

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Total variants: 11
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HGVS dbSNP
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.406-2A>G rs113994191
NM_033028.5(BBS4):c.587+1G>A rs886051466
NM_033028.5(BBS4):c.712-1G>A rs377031435
NM_033028.5(BBS4):c.75dup (p.Ala26fs) rs1567398832
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632

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