ClinVar Miner

List of variants reported as likely pathogenic for Stromme syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_016343.4(CENPF):c.1195-2A>G rs1571707321
NM_016343.4(CENPF):c.4189_4192del (p.Asp1397fs) rs776697039
NM_016343.4(CENPF):c.7639G>T (p.Glu2547Ter) rs779120472

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