ClinVar Miner

List of variants studied for 5q14.3 microdeletion syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001131005.2(MEF2C):c.1373C>T (p.Ser458Phe) rs607159
NM_001131005.2(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_001131005.2(MEF2C):c.559C>T (p.Arg187Ter) rs587783747
NM_001131005.2(MEF2C):c.579C>T (p.Asn193=) rs398123686
NM_001131005.2(MEF2C):c.805-865del rs587783749

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