List of variants reported as likely pathogenic for Bardet-Biedl syndrome 16

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter)	rs367572249	0.00001
NM_006642.3:c.1069_1356del
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)	rs770084716
NM_006642.5(SDCCAG8):c.1853+1G>A	rs1573930690
NM_006642.5(SDCCAG8):c.1853+2T>C
NM_006642.5(SDCCAG8):c.420+1G>A

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