List of variants studied for Joubert syndrome by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile)	rs376795880	0.00049
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)	rs756856188	0.00014
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)	rs606231259	0.00007
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys)	rs1040832003	0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)	rs144610914	0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs)	rs760830696	0.00002
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter)	rs1566903524	0.00001
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)	rs766524637
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)	rs1719933188
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
NM_006346.4(PIBF1):c.1971_1973delinsT (p.Leu657fs)	rs774671946

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