ClinVar Miner

List of variants in gene MEF2C studied for not provided

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Gene type:
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Total variants: 146
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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.589+57A>C rs3729703 0.01312
NM_002397.5(MEF2C):c.1101-254C>T rs144445046 0.00448
NM_002397.5(MEF2C):c.1100+111T>C rs45596931 0.00426
NM_002397.5(MEF2C):c.1100+145T>C rs3729669 0.00369
NM_002397.5(MEF2C):c.54+173A>G rs73179423 0.00358
NC_000005.10:g.88480873T>G rs554441006 0.00142
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_002397.5(MEF2C):c.964+23A>G rs3729668 0.00031
NM_001131005.2(MEF2C):c.-143+6T>C rs749992711 0.00027
NM_002397.5(MEF2C):c.27G>A (p.Thr9=) rs540349899 0.00021
NM_002397.5(MEF2C):c.*3046G>A rs563346285 0.00018
NM_002397.5(MEF2C):c.402+46T>C rs763680701 0.00018
NM_002397.5(MEF2C):c.402+104C>T rs569860731 0.00014
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.759A>G (p.Pro253=) rs368575766 0.00006
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr) rs796052726 0.00005
NM_002397.5(MEF2C):c.1332C>T (p.His444=) rs376439815 0.00004
NM_002397.5(MEF2C):c.34A>G (p.Met12Val) rs965091526 0.00004
NM_002397.5(MEF2C):c.402+71G>A rs369779113 0.00004
NM_002397.5(MEF2C):c.609C>T (p.Asp203=) rs997965581 0.00004
NM_002397.5(MEF2C):c.-1T>C rs1199121348 0.00003
NM_002397.5(MEF2C):c.1299G>C (p.Gly433=) rs771241026 0.00003
NM_002397.5(MEF2C):c.402+208A>G rs764312143 0.00003
NM_002397.5(MEF2C):c.1020C>T (p.Ser340=) rs756799434 0.00002
NM_002397.5(MEF2C):c.402+152A>G rs774007350 0.00002
NM_002397.5(MEF2C):c.489A>G (p.Ser163=) rs781632867 0.00002
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) rs797045703 0.00001
NM_002397.5(MEF2C):c.1053A>G (p.Gln351=) rs970307256 0.00001
NM_002397.5(MEF2C):c.261G>A (p.Thr87=) rs777529202 0.00001
NM_002397.5(MEF2C):c.308C>T (p.Ala103Val) rs755436703 0.00001
NM_002397.5(MEF2C):c.402+75G>T rs997329230 0.00001
NM_002397.5(MEF2C):c.423C>T (p.Phe141=) rs774945849 0.00001
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686 0.00001
NM_002397.5(MEF2C):c.686C>T (p.Pro229Leu) rs1761808498 0.00001
NM_002397.5(MEF2C):c.730A>G (p.Met244Val) rs752349182 0.00001
NM_002397.5(MEF2C):c.798G>A (p.Thr266=) rs761222463 0.00001
GRCh37/hg19 5q14.3(chr5:88041931-88078617)x1
GRCh37/hg19 5q14.3(chr5:88054762-88271992)x1
GRCh37/hg19 5q14.3(chr5:88062122-88111344)x3
GRCh37/hg19 5q14.3(chr5:88079010-88297500)x3
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(chr5:88119552-88119605)x1
GRCh37/hg19 5q14.3(chr5:88122457-88197779)x3
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_001131005.2(MEF2C):c.805-887_805-884del rs1760863025
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.*32del rs56660854
NM_002397.5(MEF2C):c.-143+89A>G rs10044342
NM_002397.5(MEF2C):c.-207C>T rs200560914
NM_002397.5(MEF2C):c.-207CT[7] rs879560669
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.100G>T (p.Glu34Ter) rs1057520584
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln) rs796052727
NM_002397.5(MEF2C):c.106A>G (p.Ser36Gly) rs2153074738
NM_002397.5(MEF2C):c.1075C>A (p.Pro359Thr)
NM_002397.5(MEF2C):c.109G>A (p.Val37Met)
NM_002397.5(MEF2C):c.1101-3C>T
NM_002397.5(MEF2C):c.1128G>C (p.Gln376His) rs1756837959
NM_002397.5(MEF2C):c.115T>C (p.Cys39Arg) rs796052729
NM_002397.5(MEF2C):c.1201C>T (p.Arg401Cys) rs1064797057
NM_002397.5(MEF2C):c.1202G>A (p.Arg401His) rs2152045243
NM_002397.5(MEF2C):c.121T>C (p.Cys41Arg) rs794727493
NM_002397.5(MEF2C):c.1226C>A (p.Pro409Gln)
NM_002397.5(MEF2C):c.126G>C (p.Glu42Asp) rs2153074530
NM_002397.5(MEF2C):c.1293C>G (p.Tyr431Ter) rs780925017
NM_002397.5(MEF2C):c.1337C>G (p.Pro446Arg) rs2152042647
NM_002397.5(MEF2C):c.1360C>A (p.Pro454Thr)
NM_002397.5(MEF2C):c.1380C>T (p.Pro460=) rs1244083930
NM_002397.5(MEF2C):c.13_14del (p.Lys5fs) rs1554150590
NM_002397.5(MEF2C):c.1413G>A (p.Trp471Ter)
NM_002397.5(MEF2C):c.1415C>A (p.Ala472Glu) rs1561641773
NM_002397.5(MEF2C):c.14del (p.Lys5fs) rs1554150590
NM_002397.5(MEF2C):c.160C>T (p.Leu54=)
NM_002397.5(MEF2C):c.168G>C (p.Gln56His) rs2153074335
NM_002397.5(MEF2C):c.17T>G (p.Ile6Ser)
NM_002397.5(MEF2C):c.225G>T (p.Pro75=) rs779924552
NM_002397.5(MEF2C):c.236G>C (p.Arg79Pro) rs1554139693
NM_002397.5(MEF2C):c.258+1G>T rs1064797310
NM_002397.5(MEF2C):c.258+2T>G rs1554139674
NM_002397.5(MEF2C):c.259-1G>A rs2152674810
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_002397.5(MEF2C):c.315T>G (p.Asp105Glu)
NM_002397.5(MEF2C):c.346A>G (p.Lys116Glu) rs1777713411
NM_002397.5(MEF2C):c.402+106A>G
NM_002397.5(MEF2C):c.403-211A>G rs647983
NM_002397.5(MEF2C):c.415C>T (p.Pro139Ser) rs2152525975
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter) rs1554150552
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer) rs1554150543
NM_002397.5(MEF2C):c.524C>T (p.Pro175Leu) rs2152524882
NM_002397.5(MEF2C):c.55-45G>A rs185608147
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.566_567dup (p.Pro190fs) rs1554112069
NM_002397.5(MEF2C):c.589+8del
NM_002397.5(MEF2C):c.637+2T>C rs1064793730
NM_002397.5(MEF2C):c.638-1G>A rs2152281284
NM_002397.5(MEF2C):c.638-2A>G rs1554102556
NM_002397.5(MEF2C):c.645G>A (p.Gly215=) rs1406989584
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002397.5(MEF2C):c.709C>T (p.Gln237Ter) rs1561698356
NM_002397.5(MEF2C):c.728del (p.Pro243fs) rs1581392920
NM_002397.5(MEF2C):c.752G>A (p.Arg251His) rs1761785681
NM_002397.5(MEF2C):c.799A>G (p.Met267Val) rs1761753278
NM_002397.5(MEF2C):c.810+191dup rs11439565
NM_002397.5(MEF2C):c.811-267del rs370988334
NM_002397.5(MEF2C):c.811-9T>G rs1057521717
NM_002397.5(MEF2C):c.82T>G (p.Leu28Val)
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_002397.5(MEF2C):c.834+182del rs34297769
NM_002397.5(MEF2C):c.860C>A (p.Ser287Ter) rs777826971
NM_002397.5(MEF2C):c.908T>G (p.Leu303Ter)
NM_002397.5(MEF2C):c.926dup (p.Gly310fs) rs786200981
NM_002397.5(MEF2C):c.941C>G (p.Ala314Gly) rs1064796969
NM_002397.5(MEF2C):c.964G>A (p.Glu322Lys) rs2152223232
NM_002397.5(MEF2C):c.965-11C>A rs1043608782
NM_002397.5(MEF2C):c.965-11C>T rs1043608782
NM_002397.5(MEF2C):c.992C>T (p.Ser331Leu)

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