ClinVar Miner

List of variants studied for Wiedemann-Steiner syndrome by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_001197104.1(KMT2A):c.7438C>T (p.Arg2480Ter) rs1555046568
NM_005933.4(KMT2A):c.1038del (p.Val347fs) rs1555035779
NM_005933.4(KMT2A):c.3566G>A (p.Cys1189Tyr) rs1555038125
NM_005933.4(KMT2A):c.4599dup (p.Lys1534Ter) rs398122881
NM_005933.4(KMT2A):c.6904del (p.Ser2302fs) rs398122880
NM_005933.4(KMT2A):c.7135C>T (p.Arg2379Ter) rs387907275
NM_005933.4(KMT2A):c.8258del (p.Asn2752_Leu2753insTer) rs398122879
NM_005933.4(KMT2A):c.8793_8796GTCT[1] (p.Ser2932_Val2933insTer) rs398122878

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