ClinVar Miner

List of variants reported as benign for Joubert syndrome 1

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Total variants: 34
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HGVS dbSNP gnomAD frequency
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_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078 0.05472
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
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_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173 0.00415
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_019892.6(INPP5E):c.1550-14C>T rs181576122 0.00117
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001174150.2(ARL13B):c.486+22del rs368491848
NM_001174150.2(ARL13B):c.486+22dup rs368491848
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

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