ClinVar Miner

List of variants in gene MEF2C reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
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
NM_002397.5(MEF2C):c.964+23A>G rs3729668 0.00031
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.258+7G>C rs372739987 0.00010
NM_002397.5(MEF2C):c.780A>G (p.Pro260=) rs776117674 0.00008
NM_002397.5(MEF2C):c.258+10C>T rs563149132 0.00004
NM_002397.5(MEF2C):c.402+71G>A rs369779113 0.00004
NM_002397.5(MEF2C):c.871T>C (p.Leu291=) rs747980554 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+152A>G rs774007350 0.00002
NM_002397.5(MEF2C):c.615G>A (p.Thr205=) rs776496777 0.00002
NM_002397.5(MEF2C):c.810+10A>T rs587783748 0.00002
NM_002397.5(MEF2C):c.834+16G>A rs760064638 0.00002
NM_002397.5(MEF2C):c.1086C>A (p.Ala362=) rs1057521169 0.00001
NM_002397.5(MEF2C):c.132G>A (p.Ala44=) rs776920242 0.00001
NM_002397.5(MEF2C):c.261G>A (p.Thr87=) rs777529202 0.00001
NM_002397.5(MEF2C):c.402+18C>T rs759365719 0.00001
NM_002397.5(MEF2C):c.402+75G>T rs997329230 0.00001
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686 0.00001
NM_002397.5(MEF2C):c.861G>A (p.Ser287=) rs185655344 0.00001
NM_002397.4(MEF2C):c.-450_-449dup rs144197632
NM_002397.5(MEF2C):c.-143+11C>T rs1554055657
NM_002397.5(MEF2C):c.-143+17T>A rs1267825119
NM_002397.5(MEF2C):c.-207CT[7] rs879560669
NM_002397.5(MEF2C):c.-43A>T rs978491338
NM_002397.5(MEF2C):c.1293C>G (p.Tyr431Ter) rs780925017
NM_002397.5(MEF2C):c.129T>C (p.Ile43=) rs1323101986
NM_002397.5(MEF2C):c.1375A>G (p.Ser459Gly) rs1554098520
NM_002397.5(MEF2C):c.1392C>T (p.Arg464=) rs1554098511
NM_002397.5(MEF2C):c.225G>T (p.Pro75=) rs779924552
NM_002397.5(MEF2C):c.456C>T (p.His152=) rs1554112204
NM_002397.5(MEF2C):c.527C>A (p.Ser176Tyr) rs1057521189
NM_002397.5(MEF2C):c.55-45G>A rs185608147
NM_002397.5(MEF2C):c.72G>A (p.Arg24=) rs1057522729
NM_002397.5(MEF2C):c.811-267del rs370988334
NM_002397.5(MEF2C):c.965-11C>T rs1043608782
NM_002397.5(MEF2C):c.965-6_965-2del rs1064795146

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