ClinVar Miner

List of variants in gene INPP5E reported as uncertain significance for Retinal dystrophy

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.754T>C (p.Ser252Pro) rs775406790 0.00004
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1337T>C (p.Leu446Pro) rs1238625120
NM_019892.6(INPP5E):c.1505C>T (p.Pro502Leu) rs769531967
NM_019892.6(INPP5E):c.1508C>T (p.Ala503Val) rs370661476
NM_019892.6(INPP5E):c.1672G>T (p.Val558Phe) rs1417022247
NM_019892.6(INPP5E):c.1759G>A (p.Val587Met) rs1835669632

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