ClinVar Miner

List of variants studied for Wiedemann-Steiner syndrome by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_001197104.1(KMT2A):c.1642A>G (p.Thr548Ala) rs1057519412
NM_001197104.1(KMT2A):c.2618G>A (p.Ser873Asn) rs1057519618
NM_001197104.1(KMT2A):c.4696+1G>A rs1057519407
NM_001197104.1(KMT2A):c.6002_6005del (p.Phe2001fs) rs1057519408
NM_001197104.1(KMT2A):c.6080G>A (p.Gly2027Glu) rs1057519403
NM_005933.4(KMT2A):c.11022del (p.Ser3675fs)
NM_005933.4(KMT2A):c.8261dup (p.Ile2755fs)

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