ClinVar Miner

List of variants reported as pathogenic for Wiedemann-Steiner syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001197104.1(KMT2A):c.11084C>G (p.Ser3695Ter) rs782477344
NM_001197104.1(KMT2A):c.2671_2672GA[1] (p.Arg893fs) rs587783676
NM_001197104.1(KMT2A):c.458C>G (p.Ser153Ter) rs587783678
NM_001197104.1(KMT2A):c.6811del (p.Arg2271fs) rs797045656
NM_001197104.1(KMT2A):c.7831G>T (p.Glu2611Ter) rs587783679
NM_001197104.1(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680

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