List of variants studied for Bardet-Biedl syndrome 22

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_025103.4(IFT74):c.1790C>T (p.Thr597Ile)	rs3429	0.09433
NM_025103.4(IFT74):c.254A>G (p.Lys85Arg)	rs11555693	0.09345
NM_025103.4(IFT74):c.165A>G (p.Ile55Met)	rs10812505	0.05909
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)	rs62542664	0.00104
NM_025103.4(IFT74):c.1685-1G>T	rs200699377	0.00005
NM_025103.4(IFT74):c.94T>C (p.Ser32Pro)	rs201259858	0.00002
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)	rs144645349	0.00001
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg)	rs1282056614
NM_025103.4(IFT74):c.1343G>A (p.Arg448His)
NM_025103.4(IFT74):c.371_372del (p.Gln124fs)	rs2131541114

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