List of variants reported as likely pathogenic for ciliopathy by Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001369.3(DNAH5):c.4530del (p.Asn1511fs)	rs1554082275
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter)	rs773208371
NM_017950.4(CCDC40):c.1989+1G>A	rs745993158

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