ClinVar Miner

List of variants in gene MEF2C reported as pathogenic for 5q14.3 microdeletion syndrome

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Total variants: 18
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MEF2C, 1-BP DUP, 99T
NM_001131005.2(MEF2C):c.113T>A (p.Leu38Gln) rs397514655
NM_001131005.2(MEF2C):c.192dup (p.Val65fs)
NM_001131005.2(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_001131005.2(MEF2C):c.3G>C (p.Met1Ile) rs1554150607
NM_001131005.2(MEF2C):c.452del (p.Asn151fs) rs730882192
NM_001131005.2(MEF2C):c.559C>T (p.Arg187Ter) rs587783747
NM_001131005.2(MEF2C):c.608_620delinsGTCTCCAC (p.Thr203fs) rs1554110298
NM_001131005.2(MEF2C):c.632-2A>C rs1554102556
NM_001131005.2(MEF2C):c.677C>G (p.Ser226Ter) rs267607233
NM_001131005.2(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_001131005.2(MEF2C):c.774dup (p.Pro259fs) rs1561697465
NM_001131005.2(MEF2C):c.805-865del rs587783749
NM_001131005.2(MEF2C):c.80G>C (p.Gly27Ala) rs397514656
NM_001131005.2(MEF2C):c.878dup (p.Leu293fs)
NM_001131005.2(MEF2C):c.9A>T (p.Arg3Ser) rs876661308

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