List of variants studied for Bardet-biedl syndrome 21

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter)	rs751922029	0.00001
NM_177965.4(CFAP418):c.304A>T (p.Lys102Ter)	rs766087213	0.00001
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)	rs387907136	0.00001
NM_177965.4(CFAP418):c.533C>T (p.Ala178Val)	rs375314973	0.00001
NM_177965.4(CFAP418):c.240del (p.Ser81fs)	rs1587357327

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