ClinVar Miner

List of variants in gene INF2 reported as likely pathogenic for not provided

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.230T>G (p.Leu77Arg) rs1595163851
NM_022489.4(INF2):c.254C>T (p.Ser85Leu) rs1317776692
NM_022489.4(INF2):c.326T>G (p.Met109Arg) rs1555373368
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.395T>C (p.Leu132Pro) rs387907038
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.89T>G (p.Leu30Arg) rs1566777417

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