List of variants reported as pathogenic for ciliopathy by Myriad Genetics, Inc.

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	rs121908177	0.00010
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)	rs137852927	0.00008
NM_031885.5(BBS2):c.534+1G>T	rs773862084	0.00004
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter)	rs756032160	0.00001
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	rs201108965
NM_017777.4(MKS1):c.1408-34_1408-6del	rs386834043
NM_024685.4(BBS10):c.271dup (p.Cys91fs)	rs549625604

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