ClinVar Miner

List of variants reported as likely benign for 5q14.3 microdeletion syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001131005.2(MEF2C):c.108C>T (p.Ser36=) rs143129901
NM_001131005.2(MEF2C):c.252C>T (p.Ile84=) rs780952466
NM_001131005.2(MEF2C):c.258+7G>C rs372739987
NM_001131005.2(MEF2C):c.259-150C>T rs587781034
NM_001131005.2(MEF2C):c.441G>C (p.Val147=) rs1554112223
NM_001131005.2(MEF2C):c.609G>A (p.Thr203=) rs776496777
NM_001131005.2(MEF2C):c.753A>G (p.Pro251=) rs368575766

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