List of variants reported as likely pathogenic for ciliopathy by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)	rs201077964	0.00040
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs)	rs1572931120
NM_003611.3(OFD1):c.2791_2795del (p.Lys931fs)	rs1602942625
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)	rs554196965
NM_024649.5(BBS1):c.777del (p.Glu260fs)	rs1555047786
NM_025114.4(CEP290):c.297+1G>A	rs878853360
NM_153717.3(EVC):c.384G>T (p.Arg128=)	rs1553865346
NM_198428.3(BBS9):c.785T>C (p.Val262Ala)	rs886039875

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