List of variants reported as likely pathogenic for ciliopathy by Hadassah Hebrew University Medical Center

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)	rs972221242
NM_001277115.2(DNAH11):c.7267-1G>T	rs759302236
NM_001378454.1(ALMS1):c.6269del (p.Ser2090fs)	rs1572937636
NM_001481.3(GAS8):c.865del (p.Glu289fs)	rs1597643228
NM_023036.6(DNAI2):c.674del (p.Asn225fs)	rs1598293348
NM_025114.4(CEP290):c.734_735del (p.Glu245fs)	rs1592671672
NM_130810.4(DNAAF4):c.384_390del (p.Lys127_Tyr128insTer)	rs1595952313
NM_144596.4(TTC8):c.265+1_265+2del	rs1595939517
NM_176824.3(BBS7):c.87_88del (p.His29fs)	rs1578577361

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