ClinVar Miner

List of variants reported as pathogenic for Stromme syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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NM_016343.4(CENPF):c.171_199del (p.Asn57fs) rs757575602
NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter) rs367624766
NM_016343.4(CENPF):c.2734G>T (p.Glu912Ter) rs200976140
NM_016343.4(CENPF):c.574-2A>C rs376767238
NM_016343.4(CENPF):c.5920dup (p.Thr1974fs) rs757531591
NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter) rs786205697
NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter) rs869312748

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