List of variants reported as pathogenic for autosomal recessive disease by Daryl Scott Lab, Baylor College of Medicine

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter)	rs121912672	0.00001
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter)	rs1398108109
NM_012233.3(RAB3GAP1):c.1247del (p.Pro416fs)
NM_012233.3(RAB3GAP1):c.659del (p.Pro219_Leu220insTer)
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGGTTTT (p.Gln789fs)
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)	rs387907135
NM_024596.5(MCPH1):c.586del (p.Gln196fs)	rs1803595754
NM_024649.5(BBS1):c.951+1G>T	rs746875134

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