ClinVar Miner

List of variants in gene INPP5E reported as benign for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
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_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.603C>G (p.Ile201Met) rs36064831 0.01896
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.1387+19C>T rs114698406 0.00926
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175 0.00685
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173 0.00415
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974 0.00405
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633 0.00272
NM_019892.6(INPP5E):c.572C>G (p.Pro191Arg) rs61734181 0.00243
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
NM_019892.6(INPP5E):c.1875G>A (p.Glu625=) rs148539728 0.00128
NM_019892.6(INPP5E):c.120C>T (p.Pro40=) rs377154166 0.00125
NM_019892.6(INPP5E):c.1550-14C>T rs181576122 0.00117
NM_019892.6(INPP5E):c.813-8C>T rs373176644 0.00061
NM_019892.6(INPP5E):c.1159+9G>A rs114937687 0.00052
NM_019892.6(INPP5E):c.1387+14C>T rs368410258 0.00034
NM_019892.6(INPP5E):c.183G>A (p.Glu61=) rs570404672 0.00027
NM_019892.6(INPP5E):c.1470C>T (p.Asp490=) rs375301475 0.00015
NM_019892.6(INPP5E):c.1034+8G>A rs201272028
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1160-9del rs756109971
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1549+17del rs761489335
NM_019892.6(INPP5E):c.1549+17dup
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu)
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103

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