ClinVar Miner

List of variants in gene CENPF reported as likely pathogenic for Stromme syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_016343.4(CENPF):c.4999C>T (p.Arg1667Ter) rs375014198 0.00008
NM_016343.4(CENPF):c.7639G>T (p.Glu2547Ter) rs779120472 0.00001
NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter) rs869312748 0.00001
NM_016343.4(CENPF):c.1195-2A>G rs1571707321
NM_016343.4(CENPF):c.2513C>A (p.Ser838Ter)
NM_016343.4(CENPF):c.2983C>T (p.Gln995Ter)
NM_016343.4(CENPF):c.4189_4192del (p.Asp1397fs) rs776697039

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