ClinVar Miner

List of variants in gene MEF2C reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002397.5(MEF2C):c.403-139A>G rs2247885 0.48112
NM_002397.5(MEF2C):c.-142-333_-142-332insAG rs10689049 0.42870
NM_001131005.2(MEF2C):c.-239-236T>C rs17560407 0.18327
NM_002397.5(MEF2C):c.590-95G>T rs10514303 0.05491
NM_002397.5(MEF2C):c.810+199T>A rs45563631 0.05047
NM_002397.5(MEF2C):c.810+268C>T rs72771875 0.02706
NM_002397.5(MEF2C):c.258+155T>G rs3850650 0.02169
NM_002397.5(MEF2C):c.811-290T>C rs73773730 0.01934
NM_002397.5(MEF2C):c.811-13C>T rs201988423 0.00113
NM_002397.5(MEF2C):c.834+15C>T rs140447603 0.00097
NM_002397.5(MEF2C):c.-209T>C rs564254573 0.00065
NM_002397.5(MEF2C):c.811-12G>A rs149706617 0.00064
NM_002397.5(MEF2C):c.402+16A>G rs373582392 0.00050
NM_001131005.2(MEF2C):c.-143+6T>C rs749992711 0.00027
NM_002397.5(MEF2C):c.*16C>G rs200087574 0.00023
NM_002397.5(MEF2C):c.-42T>C rs371238107 0.00019
NM_002397.5(MEF2C):c.*3046G>A rs563346285 0.00018
NM_002397.5(MEF2C):c.642C>T (p.Asn214=) rs79455305 0.00011
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala) rs753002290 0.00010
NM_002397.5(MEF2C):c.180C>T (p.Thr60=) rs773278207 0.00010
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_002397.5(MEF2C):c.1332C>T (p.His444=) rs376439815 0.00004
NM_002397.5(MEF2C):c.258+10C>T rs563149132 0.00004
NM_002397.5(MEF2C):c.312C>T (p.Asp104=) rs587781034 0.00004
NM_002397.5(MEF2C):c.402+208A>G rs764312143 0.00003
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) rs797045703 0.00001
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser) rs1322552264 0.00001
NM_002397.5(MEF2C):c.730A>G (p.Met244Val) rs752349182 0.00001
NM_002397.5(MEF2C):c.963C>T (p.Thr321=) rs1363064582 0.00001
GRCh37/hg19 5q14.3(chr5:88097312-88197506)x3
GRCh37/hg19 5q14.3(chr5:88103597-88226422)x3
GRCh37/hg19 5q14.3(chr5:88105838-88119403)x1
GRCh37/hg19 5q14.3(chr5:88162245-88177599)x1
GRCh37/hg19 5q14.3(chr5:88169558-88176878)x1
GRCh37/hg19 5q14.3(chr5:88193159-88218797)x3
GRCh37/hg19 5q14.3(chr5:88193901-88218797)x3
GRCh37/hg19 5q14.3(chr5:88193901-88223420)x4
GRCh37/hg19 5q14.3(chr5:88196003-88199586)x3
GRCh37/hg19 5q14.3(chr5:88196003-88218797)x3
GRCh37/hg19 5q14.3(chr5:88196003-88223420)x4
GRCh37/hg19 5q14.3(chr5:88197506-88218797)x4
GRCh37/hg19 5q14.3(chr5:88197595-88226422)x4
NM_002397.4(MEF2C):c.-450_-449dup rs144197632
NM_002397.4(MEF2C):c.-450dup rs144197632
NM_002397.4(MEF2C):c.-523_-511TCTTCCTCCTCCT[1] rs1164925540
NM_002397.4(MEF2C):c.-548_-546CTC[5]
NM_002397.4(MEF2C):c.-548_-546CTC[8] rs567979916
NM_002397.5(MEF2C):c.*2267dup rs3841444
NM_002397.5(MEF2C):c.*32del rs56660854
NM_002397.5(MEF2C):c.-143+89A>G rs10044342
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln) rs796052727
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe) rs2152207244
NM_002397.5(MEF2C):c.1100+6C>G rs1759908843
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro) rs1554098567
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala) rs1194300256
NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu) rs2152673396
NM_002397.5(MEF2C):c.403-211A>G rs647983
NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)
NM_002397.5(MEF2C):c.557T>C (p.Val186Ala) rs1561821810
NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg) rs1310323196
NM_002397.5(MEF2C):c.638-14dup rs754587449
NM_002397.5(MEF2C):c.638-9del
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val) rs2152280607
NM_002397.5(MEF2C):c.810+191dup rs11439565
NM_002397.5(MEF2C):c.834+182del rs34297769
NM_002397.5(MEF2C):c.965-6_965-2del rs1064795146

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.