ClinVar Miner

List of variants studied 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: 10
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HGVS dbSNP
NM_001197104.1(KMT2A):c.11084C>G (p.Ser3695Ter) rs782477344
NM_001197104.1(KMT2A):c.2673_2674del (p.Arg893Glufs) rs587783676
NM_001197104.1(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.1(KMT2A):c.4426T>A (p.Cys1476Ser) rs587783677
NM_001197104.1(KMT2A):c.458C>G (p.Ser153Ter) rs587783678
NM_001197104.1(KMT2A):c.6158+6T>C rs1555045177
NM_001197104.1(KMT2A):c.6811del (p.Arg2271Glyfs) rs797045656
NM_001197104.1(KMT2A):c.7831G>T (p.Glu2611Ter) rs587783679
NM_001197104.1(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001197104.1(KMT2A):c.8543T>C (p.Leu2848Pro) rs1555047266

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