ClinVar Miner

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

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_019892.5(INPP5E):c.812+7_812+10delAGGG rs5901103
NM_019892.6(INPP5E):c.*328T>C rs35763810
NM_019892.6(INPP5E):c.*703A>G rs1128874
NM_019892.6(INPP5E):c.*816A>G rs8413
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+8C>T rs73566945
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078
NM_019892.6(INPP5E):c.1470C>T (p.Asp490=) rs375301475
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173
NM_019892.6(INPP5E):c.813-5C>G rs186462782
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378

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