List of variants reported as pathogenic for ciliopathy by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006642.5(SDCCAG8):c.740+356C>T	rs397515337	0.00006
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)	rs201780665	0.00004
NM_001382391.1(CSPP1):c.2968+1G>T	rs587777142	0.00001
NM_003611.3(OFD1):c.1358_1362del (p.Lys452_Leu453insTer)	rs2047724604
NM_006642.5(SDCCAG8):c.221-2A>G	rs797045946
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)	rs753884599
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)	rs863224530

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