ClinVar Miner

List of variants in gene INPP5E reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 18
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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.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.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.1770C>T (p.Leu590=) rs143552175 0.00685
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.623C>T (p.Thr208Ile) rs143107549 0.00177
NM_019892.6(INPP5E):c.1623C>T (p.Asp541=) rs77248046 0.00068
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182

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