ClinVar Miner

List of variants in gene INPP5E studied for cerebellar disorder

Included ClinVar conditions (275):
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys) rs763992407 0.00002
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp) rs756789619 0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568 0.00001
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1224del (p.Ile409fs) rs2131608743
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter) rs2131605715
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345

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