ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_019892.6(INPP5E):c.*926T>C rs1128877
NM_019892.6(INPP5E):c.*98G>A rs35873563
NM_019892.6(INPP5E):c.-174G>A rs544247720
NM_019892.6(INPP5E):c.-31G>C rs554931078
NM_019892.6(INPP5E):c.1047G>A (p.Glu349=) rs752019065
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG rs747240016
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286
NM_019892.6(INPP5E):c.1275C>T (p.Phe425=) rs780525765
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446
NM_019892.6(INPP5E):c.1623C>T (p.Asp541=) rs77248046
NM_019892.6(INPP5E):c.1716C>T (p.Ser572=) rs888610698
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033
NM_019892.6(INPP5E):c.528C>T (p.Ala176=) rs561511490
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549
NM_019892.6(INPP5E):c.813-5C>G rs186462782
NM_019892.6(INPP5E):c.906C>T (p.Phe302=) rs140222295
NM_019892.6(INPP5E):c.976G>A (p.Glu326Lys) rs200794870
NM_019892.6(INPP5E):c.997C>T (p.Leu333=) rs151090087

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