ClinVar Miner

List of variants reported as pathogenic for 5q14.3 microdeletion syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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MEF2C, 1-BP DUP, 99T
NM_001131005.2(MEF2C):c.113T>A (p.Leu38Gln) rs397514655
NM_001131005.2(MEF2C):c.452del (p.Asn151fs) rs730882192
NM_001131005.2(MEF2C):c.677C>G (p.Ser226Ter) rs267607233
NM_001131005.2(MEF2C):c.80G>C (p.Gly27Ala) rs397514656

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