ClinVar Miner

List of variants in gene INF2 reported by Gharavi Laboratory, Columbia University

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup) rs573567814
NM_022489.4(INF2):c.1281_1283del (p.Pro428del) rs1566781582
NM_022489.4(INF2):c.254C>T (p.Ser85Leu) rs1317776692
NM_022489.4(INF2):c.3530_3531insCGAAGA (p.1171_1172DE[4]) rs1566786530
NM_022489.4(INF2):c.3745del (p.Gln1249fs) rs1566787065
NM_022489.4(INF2):c.452G>A (p.Cys151Tyr) rs1566778512
NM_022489.4(INF2):c.530G>A (p.Arg177His) rs1566778651
NM_022489.4(INF2):c.530G>C (p.Arg177Pro) rs1566778651
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.89T>G (p.Leu30Arg) rs1566777417

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