ClinVar Miner

List of variants in gene MEF2C reported as pathogenic for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 5q14.3(chr5:88065061-88406446)
NC_000005.10:g.(?_88722584)_(88823808_?)del
NC_000005.10:g.(?_88804588)_(88884466_?)del
NC_000005.10:g.88731902del
NC_000005.9:g.(?_88027526)_(88027738_?)del
NC_000005.9:g.(?_88047654)_(88047880_?)del
NC_000005.9:g.(?_88056982)_(88119605_?)del
NC_000005.9:g.(?_88100395)_(88100638_?)del
NC_000005.9:g.(?_88100395)_(88119605_?)del
NM_002397.4:c.(?_-1)_(*1_?)del
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.-66A>T rs1350600010
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro) rs2153074771
NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln) rs397514655
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro) rs397514655
NM_002397.5(MEF2C):c.192dup (p.Val65fs) rs1580988138
NM_002397.5(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_002397.5(MEF2C):c.210delinsTAC (p.Glu71fs)
NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter) rs2153074000
NM_002397.5(MEF2C):c.241A>G (p.Asn81Asp)
NM_002397.5(MEF2C):c.258+2T>C
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile) rs1554150607
NM_002397.5(MEF2C):c.401_402+2del rs1561875779
NM_002397.5(MEF2C):c.402+1G>A
NM_002397.5(MEF2C):c.403-1G>A
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro) rs1202957297
NM_002397.5(MEF2C):c.458del (p.Asn153fs) rs730882192
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter) rs1554150552
NM_002397.5(MEF2C):c.468del (p.Tyr157fs)
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer) rs1554150543
NM_002397.5(MEF2C):c.559dup (p.Thr187fs) rs2152524628
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.638-2A>C rs1554102556
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter) rs267607233
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002397.5(MEF2C):c.780dup (p.Pro261fs) rs1561697465
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala) rs397514656
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_002397.5(MEF2C):c.881del (p.Pro294fs)
NM_002397.5(MEF2C):c.88AAG[1] (p.Lys31del)
NM_002397.5(MEF2C):c.908del (p.Leu303fs)
NM_002397.5(MEF2C):c.908dup (p.Leu303fs) rs1581338441
NM_002397.5(MEF2C):c.939_940del (p.Ala314fs)
NM_002397.5(MEF2C):c.965-2A>G rs1759968705
NM_002397.5(MEF2C):c.988del (p.Leu330fs) rs1759964009
NM_002397.5(MEF2C):c.999_1000del (p.Ser334fs)
NM_002397.5(MEF2C):c.99dup (p.Glu34Ter) rs2153074822
NM_002397.5(MEF2C):c.9A>T (p.Arg3Ser) rs876661308

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