List of variants reported as pathogenic for Bardet-Biedl syndrome 12 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	rs121918327	0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	rs752202089	0.00001
NM_152618.3(BBS12):c.1082del (p.Gly361fs)	rs1057517193
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)	rs587777803
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)	rs759455327
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)	rs1553941580
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs)	rs746478265
NM_152618.3(BBS12):c.670dup (p.Thr224fs)	rs1339432710

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