List of variants reported as benign for Joubert syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.853-12_853-11insG	rs71082425	0.87640
NM_001173990.3(TMEM216):c.432-11_432-10insA	rs11382548	0.83974
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)	rs10781542	0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)	rs10870194	0.42571
NM_019892.6(INPP5E):c.*328T>C	rs35763810	0.41134
NM_019892.6(INPP5E):c.*703A>G	rs1128874	0.40097
NM_019892.6(INPP5E):c.*816A>G	rs8413	0.40078
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=)	rs33982662	0.22912
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)	rs10870199	0.10324
NM_024753.4(TTC21B):c.-145G>A	rs111867313	0.09068
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=)	rs35774078	0.05472
NM_019892.6(INPP5E):c.33C>G (p.Ser11=)	rs79161998	0.02475
NM_019892.6(INPP5E):c.1388-13C>T	rs78828148	0.01500
NM_019892.6(INPP5E):c.981C>T (p.Ala327=)	rs35498378	0.01340
NM_019892.6(INPP5E):c.636C>A (p.Val212=)	rs34071122	0.01252
NM_019892.6(INPP5E):c.531C>A (p.Ala177=)	rs58206296	0.01135
NM_019892.6(INPP5E):c.791G>A (p.Arg264His)	rs202197173	0.00415
NM_019892.6(INPP5E):c.1159+8C>T	rs73566945	0.00276
NM_019892.6(INPP5E):c.1550-14C>T	rs181576122	0.00117
NM_001134831.2(AHI1):c.*1051ATTT[1]	rs144339517
NM_018718.3(CEP41):c.*3526dup	rs3839655
NM_019892.6(INPP5E):c.1521C>T (p.His507=)	rs10870188
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)	rs10870182
NM_019892.6(INPP5E):c.812+7_812+10del	rs5901103
NM_024809.5(TCTN2):c.330_331insACTC	rs56918215
NM_025114.4(CEP290):c.3574-9del	rs10717563
NM_025114.4(CEP290):c.6522+5dup	rs11405846

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