List of variants reported as likely pathogenic for Joubert syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	rs267607119	0.00009
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met)	rs771551765	0.00004
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys)	rs149170427	0.00002
NM_001352754.2(ARMC9):c.879G>A (p.Thr293=)	rs766572502	0.00001
NM_001384732.1(CPLANE1):c.8858G>A (p.Trp2953Ter)	rs1482303814	0.00001
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)	rs972221242
NM_001044385.3(TMEM237):c.80-2A>G	rs1445957469
NM_001329943.3(KIAA0586):c.787C>T (p.Gln263Ter)	rs985118235
NM_006346.4(PIBF1):c.1056_1068del (p.Lys353fs)
NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer)	rs1484807480
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)	rs1567800920
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
NM_024809.5(TCTN2):c.1877dup (p.Leu626fs)
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)	rs1465414886
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)	rs1592833648
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)	rs561598805
NM_153704.6(TMEM67):c.1575+5G>A	rs1554555063

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