ClinVar Miner

List of variants in gene MECR studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 285
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HGVS dbSNP gnomAD frequency
NM_016011.5(MECR):c.406+82G>C rs2640469 0.94877
NM_016011.5(MECR):c.597A>G (p.Ala199=) rs1062924 0.85930
NM_016011.5(MECR):c.286T>C (p.Phe96Leu) rs1128400 0.83145
NM_016011.5(MECR):c.274+174T>A rs3003636 0.83144
NM_016011.5(MECR):c.176+19G>A rs2640466 0.80531
NM_016011.5(MECR):c.407-184G>A rs2452785 0.69675
NM_016011.5(MECR):c.551-198G>A rs12032476 0.33859
NM_016011.5(MECR):c.550+194T>C rs2503017 0.30697
NM_016011.5(MECR):c.757-231C>T rs2452771 0.10861
NM_016011.5(MECR):c.756+43C>G rs903045 0.10835
NM_016011.5(MECR):c.757-44G>A rs2503016 0.10779
NM_016011.5(MECR):c.177-207A>G rs111326964 0.10764
NM_016011.5(MECR):c.407-279G>A rs12404656 0.10733
NM_016011.5(MECR):c.964+69C>T rs2291611 0.10712
NM_016011.5(MECR):c.407-56G>T rs12731683 0.02615
NM_016011.5(MECR):c.550+42A>G rs12743830 0.02512
NM_016011.5(MECR):c.275-7C>T rs34620411 0.02465
NM_016011.5(MECR):c.653+214A>G rs12751164 0.01335
NM_016011.5(MECR):c.275-29G>A rs35345653 0.01311
NM_016011.5(MECR):c.406+75A>C rs141053889 0.00923
NM_016011.5(MECR):c.551-121G>C rs11804247 0.00837
NM_016011.5(MECR):c.550+133T>C rs76349009 0.00759
NM_016011.5(MECR):c.830+18G>T rs112436480 0.00751
NM_016011.5(MECR):c.830C>T (p.Ala277Val) rs148978800 0.00429
NM_016011.5(MECR):c.773G>T (p.Arg258Leu) rs34835902 0.00418
NM_016011.5(MECR):c.680G>A (p.Arg227Lys) rs11544658 0.00145
NM_016011.5(MECR):c.535G>A (p.Glu179Lys) rs144073611 0.00138
NM_016011.5(MECR):c.670C>T (p.Leu224=) rs138091159 0.00124
NM_016011.5(MECR):c.406+13A>G rs200694552 0.00083
NM_016011.5(MECR):c.756+16G>A rs201622334 0.00080
NM_016011.5(MECR):c.282C>T (p.Tyr94=) rs140812494 0.00065
NM_016011.5(MECR):c.93C>T (p.Ala31=) rs567629450 0.00029
NM_016011.5(MECR):c.341C>T (p.Ala114Val) rs138259600 0.00026
NM_016011.5(MECR):c.420C>T (p.Thr140=) rs146959442 0.00026
NM_016011.5(MECR):c.459G>A (p.Pro153=) rs564639950 0.00021
NM_016011.5(MECR):c.965-11A>G rs374970921 0.00021
NM_016011.5(MECR):c.877G>A (p.Val293Ile) rs368580393 0.00011
NM_016011.4(MECR):c.772C>T (p.Arg258Trp) rs145192716 0.00006
NM_016011.5(MECR):c.219C>T (p.Val73=) rs113271042 0.00006
NM_016011.5(MECR):c.830+2dup rs756421370 0.00006
NM_016011.5(MECR):c.1010G>A (p.Arg337Gln) rs750089240 0.00004
NM_016011.5(MECR):c.1022C>T (p.Thr341Ile) rs376502800 0.00004
NM_016011.5(MECR):c.547C>T (p.Pro183Ser) rs1676689011 0.00004
NM_016011.5(MECR):c.240C>A (p.Ala80=) rs765217269 0.00003
NM_016011.5(MECR):c.143A>G (p.Tyr48Cys) rs768742328 0.00002
NM_016011.5(MECR):c.242C>T (p.Pro81Leu) rs1373869193 0.00002
NM_016011.5(MECR):c.638A>G (p.Asn213Ser) rs200195789 0.00002
NM_016011.5(MECR):c.695G>A (p.Gly232Glu) rs762913101 0.00002
NM_016011.5(MECR):c.114C>G (p.Ala38=) rs755789151 0.00001
NM_016011.5(MECR):c.965-14C>T rs1055805779 0.00001
NM_016011.5(MECR):c.965-3C>T rs377112889 0.00001
NC_000001.10:g.(?_29520534)_(29543217_?)del
NC_000001.10:g.(?_29527008)_(29527121_?)del
NC_000001.10:g.(?_29542497)_(29543217_?)del
NC_000001.11:g.29195999_29196014A[5]TGAGCAGGCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATGAGCAGGCTC[1]
NM_016011.5(MECR):c.1002C>A (p.Leu334=) rs140504683
NM_016011.5(MECR):c.1002C>T (p.Leu334=)
NM_016011.5(MECR):c.1006C>T (p.Arg336Cys)
NM_016011.5(MECR):c.1008C>T (p.Arg336=)
NM_016011.5(MECR):c.1009C>T (p.Arg337Ter)
NM_016011.5(MECR):c.1047G>A (p.Pro349=)
NM_016011.5(MECR):c.1047G>T (p.Pro349=)
NM_016011.5(MECR):c.1056C>G (p.Asp352Glu)
NM_016011.5(MECR):c.1062G>A (p.Gln354=)
NM_016011.5(MECR):c.1068C>T (p.Ala356=)
NM_016011.5(MECR):c.1077C>A (p.Ala359=)
NM_016011.5(MECR):c.1080C>T (p.Ser360=)
NM_016011.5(MECR):c.1093A>C (p.Ile365Leu)
NM_016011.5(MECR):c.1101A>G (p.Ser367=)
NM_016011.5(MECR):c.1104G>A (p.Lys368=)
NM_016011.5(MECR):c.1113C>T (p.Leu371=)
NM_016011.5(MECR):c.1114A>G (p.Thr372Ala)
NM_016011.5(MECR):c.1118T>C (p.Met373Thr)
NM_016011.5(MECR):c.118C>G (p.Pro40Ala)
NM_016011.5(MECR):c.118C>T (p.Pro40Ser)
NM_016011.5(MECR):c.126G>A (p.Arg42=)
NM_016011.5(MECR):c.129C>T (p.Val43=)
NM_016011.5(MECR):c.141C>G (p.Val47=)
NM_016011.5(MECR):c.144T>C (p.Tyr48=)
NM_016011.5(MECR):c.147G>T (p.Gly49=)
NM_016011.5(MECR):c.150C>T (p.His50=)
NM_016011.5(MECR):c.153C>T (p.His51=)
NM_016011.5(MECR):c.156G>T (p.Gly52=)
NM_016011.5(MECR):c.163G>C (p.Ala55Pro)
NM_016011.5(MECR):c.174C>A (p.Val58=)
NM_016011.5(MECR):c.176+15C>G
NM_016011.5(MECR):c.176+6A>T
NM_016011.5(MECR):c.177-13G>A
NM_016011.5(MECR):c.177-18G>A
NM_016011.5(MECR):c.177-19C>T
NM_016011.5(MECR):c.177-209_177-194dup rs144552561
NM_016011.5(MECR):c.177-4T>G
NM_016011.5(MECR):c.177-9_177-7del
NM_016011.5(MECR):c.18C>A (p.Thr6=)
NM_016011.5(MECR):c.18C>T (p.Thr6=)
NM_016011.5(MECR):c.198T>G (p.Ala66=)
NM_016011.5(MECR):c.201T>C (p.Ala67=)
NM_016011.5(MECR):c.202del (p.Ala67_Val68insTer)
NM_016011.5(MECR):c.213A>G (p.Ser71=)
NM_016011.5(MECR):c.216T>C (p.Asp72=)
NM_016011.5(MECR):c.21G>A (p.Leu7=)
NM_016011.5(MECR):c.225G>T (p.Val75=)
NM_016011.5(MECR):c.234G>A (p.Leu78=)
NM_016011.5(MECR):c.237G>A (p.Ala79=)
NM_016011.5(MECR):c.246C>T (p.Ile82=)
NM_016011.5(MECR):c.247_250del (p.Asn83fs) rs1057519287
NM_016011.5(MECR):c.274+15T>G
NM_016011.5(MECR):c.274+20C>T
NM_016011.5(MECR):c.275-12C>T
NM_016011.5(MECR):c.275-14C>G
NM_016011.5(MECR):c.275-5C>T
NM_016011.5(MECR):c.27G>A (p.Arg9=)
NM_016011.5(MECR):c.27G>T (p.Arg9=)
NM_016011.5(MECR):c.283G>A (p.Gly95Arg)
NM_016011.5(MECR):c.285_286delinsTC (p.Phe96Leu) rs2151896493
NM_016011.5(MECR):c.286= (p.Phe96=)
NM_016011.5(MECR):c.286_287delinsCC (p.Phe96Pro) rs2151896481
NM_016011.5(MECR):c.287T>C (p.Phe96Ser)
NM_016011.5(MECR):c.288C>G (p.Phe96Leu)
NM_016011.5(MECR):c.29T>C (p.Val10Ala)
NM_016011.5(MECR):c.29T>G (p.Val10Gly) rs200637441
NM_016011.5(MECR):c.315G>A (p.Gly105=)
NM_016011.5(MECR):c.318C>T (p.Asn106=)
NM_016011.5(MECR):c.319G>A (p.Glu107Lys)
NM_016011.5(MECR):c.319G>T (p.Glu107Ter)
NM_016011.5(MECR):c.331C>T (p.Gln111Ter)
NM_016011.5(MECR):c.342G>A (p.Ala114=)
NM_016011.5(MECR):c.34A>C (p.Thr12Pro)
NM_016011.5(MECR):c.360C>T (p.Thr120=)
NM_016011.5(MECR):c.363G>A (p.Gly121=)
NM_016011.5(MECR):c.366G>A (p.Leu122=)
NM_016011.5(MECR):c.36C>G (p.Thr12=)
NM_016011.5(MECR):c.36C>T (p.Thr12=)
NM_016011.5(MECR):c.393A>G (p.Ala131=)
NM_016011.5(MECR):c.39C>A (p.Pro13=) rs758861205
NM_016011.5(MECR):c.39C>G (p.Pro13=)
NM_016011.5(MECR):c.402T>C (p.Gly134=)
NM_016011.5(MECR):c.406+12C>T
NM_016011.5(MECR):c.406+16T>C
NM_016011.5(MECR):c.407-10T>G
NM_016011.5(MECR):c.407-15C>T
NM_016011.5(MECR):c.407-7G>T
NM_016011.5(MECR):c.407-8T>G
NM_016011.5(MECR):c.421G>A (p.Glu141Lys)
NM_016011.5(MECR):c.435C>T (p.Ser145=)
NM_016011.5(MECR):c.43C>A (p.Arg15=)
NM_016011.5(MECR):c.444A>C (p.Ala148=)
NM_016011.5(MECR):c.447G>C (p.Leu149=)
NM_016011.5(MECR):c.448A>G (p.Ile150Val)
NM_016011.5(MECR):c.449dup (p.Gln151fs)
NM_016011.5(MECR):c.44_57del (p.Arg15fs)
NM_016011.5(MECR):c.458C>T (p.Pro153Leu)
NM_016011.5(MECR):c.468C>T (p.Ile156=)
NM_016011.5(MECR):c.469C>T (p.Pro157Ser)
NM_016011.5(MECR):c.46C>T (p.Gln16Ter)
NM_016011.5(MECR):c.471T>C (p.Pro157=)
NM_016011.5(MECR):c.480C>T (p.Ser160=)
NM_016011.5(MECR):c.481G>A (p.Ala161Thr)
NM_016011.5(MECR):c.489C>T (p.Thr163=)
NM_016011.5(MECR):c.492G>A (p.Leu164=)
NM_016011.5(MECR):c.500A>G (p.Asn167Ser)
NM_016011.5(MECR):c.516C>T (p.Tyr172=)
NM_016011.5(MECR):c.534C>T (p.Phe178=)
NM_016011.5(MECR):c.540A>G (p.Gln180=)
NM_016011.5(MECR):c.541C>T (p.Leu181=)
NM_016011.5(MECR):c.544del (p.Gln182fs)
NM_016011.5(MECR):c.550+10C>T
NM_016011.5(MECR):c.550+12C>T
NM_016011.5(MECR):c.550+13A>G
NM_016011.5(MECR):c.550+14G>C
NM_016011.5(MECR):c.550+15G>T
NM_016011.5(MECR):c.550+16T>C
NM_016011.5(MECR):c.550+8C>A
NM_016011.5(MECR):c.551-12C>T
NM_016011.5(MECR):c.551-13C>T
NM_016011.5(MECR):c.551-18C>G
NM_016011.5(MECR):c.551-18C>T
NM_016011.5(MECR):c.551-3C>T
NM_016011.5(MECR):c.551-7T>C
NM_016011.5(MECR):c.551-8C>T
NM_016011.5(MECR):c.55G>T (p.Gly19Trp)
NM_016011.5(MECR):c.569A>G (p.Asn190Ser)
NM_016011.5(MECR):c.570T>C (p.Asn190=)
NM_016011.5(MECR):c.57G>C (p.Gly19=)
NM_016011.5(MECR):c.582C>T (p.Ser194=)
NM_016011.5(MECR):c.583G>A (p.Gly195Arg)
NM_016011.5(MECR):c.585A>T (p.Gly195=)
NM_016011.5(MECR):c.586G>A (p.Val196Met)
NM_016011.5(MECR):c.597= (p.Ala199=)
NM_016011.5(MECR):c.5G>A (p.Trp2Ter)
NM_016011.5(MECR):c.604C>T (p.Gln202Ter)
NM_016011.5(MECR):c.609C>G (p.Ile203Met)
NM_016011.5(MECR):c.60G>T (p.Leu20=)
NM_016011.5(MECR):c.610G>C (p.Ala204Pro)
NM_016011.5(MECR):c.612C>T (p.Ala204=)
NM_016011.5(MECR):c.613G>A (p.Ala205Thr)
NM_016011.5(MECR):c.622G>T (p.Gly208Cys) rs2151862349
NM_016011.5(MECR):c.624C>T (p.Gly208=)
NM_016011.5(MECR):c.627A>G (p.Leu209=)
NM_016011.5(MECR):c.63C>G (p.Leu21=)
NM_016011.5(MECR):c.63C>T (p.Leu21=)
NM_016011.5(MECR):c.642G>A (p.Val214=)
NM_016011.5(MECR):c.646C>T (p.Arg216Ter)
NM_016011.5(MECR):c.653+5G>A
NM_016011.5(MECR):c.653+9G>A
NM_016011.5(MECR):c.654-13G>A
NM_016011.5(MECR):c.654-13G>T
NM_016011.5(MECR):c.654-14T>C
NM_016011.5(MECR):c.654-19A>G
NM_016011.5(MECR):c.654-1G>T
NM_016011.5(MECR):c.654-20G>C
NM_016011.5(MECR):c.654-8G>A
NM_016011.5(MECR):c.654-9G>C
NM_016011.5(MECR):c.661A>C (p.Ile221Leu)
NM_016011.5(MECR):c.666G>A (p.Gln222=)
NM_016011.5(MECR):c.676dup (p.Asp226fs)
NM_016011.5(MECR):c.684G>A (p.Leu228=)
NM_016011.5(MECR):c.68C>G (p.Ala23Gly)
NM_016011.5(MECR):c.696_697dup (p.Ala233fs)
NM_016011.5(MECR):c.699T>C (p.Ala233=)
NM_016011.5(MECR):c.69T>A (p.Ala23=)
NM_016011.5(MECR):c.711C>T (p.Ile237=)
NM_016011.5(MECR):c.717A>G (p.Glu239=)
NM_016011.5(MECR):c.735C>G (p.Pro245=)
NM_016011.5(MECR):c.756+12G>A
NM_016011.5(MECR):c.756+13A>G
NM_016011.5(MECR):c.756+5C>T
NM_016011.5(MECR):c.757-12G>A
NM_016011.5(MECR):c.757-14T>C
NM_016011.5(MECR):c.757-9G>T
NM_016011.5(MECR):c.760A>T (p.Met254Leu)
NM_016011.5(MECR):c.76T>G (p.Cys26Gly)
NM_016011.5(MECR):c.783C>T (p.Leu261=)
NM_016011.5(MECR):c.795T>C (p.Gly265=)
NM_016011.5(MECR):c.80A>T (p.His27Leu)
NM_016011.5(MECR):c.81C>A (p.His27Gln)
NM_016011.5(MECR):c.820C>T (p.Arg274Trp)
NM_016011.5(MECR):c.826T>C (p.Leu276=)
NM_016011.5(MECR):c.830+12G>C
NM_016011.5(MECR):c.830+14G>A
NM_016011.5(MECR):c.830+16C>T
NM_016011.5(MECR):c.830+18G>A
NM_016011.5(MECR):c.830+1G>A rs778879465
NM_016011.5(MECR):c.830+1del
NM_016011.5(MECR):c.830+7C>T
NM_016011.5(MECR):c.831-2A>G
NM_016011.5(MECR):c.832C>T (p.Arg278Cys)
NM_016011.5(MECR):c.838G>A (p.Gly280Arg)
NM_016011.5(MECR):c.840A>G (p.Gly280=)
NM_016011.5(MECR):c.855T>G (p.Tyr285Ter) rs1057519286
NM_016011.5(MECR):c.861G>A (p.Gly287=)
NM_016011.5(MECR):c.861dup (p.Met288fs)
NM_016011.5(MECR):c.876C>T (p.Pro292=)
NM_016011.5(MECR):c.885C>T (p.Ala295=)
NM_016011.5(MECR):c.890_891del (p.Val297fs)
NM_016011.5(MECR):c.891+10G>T
NM_016011.5(MECR):c.891+12G>A
NM_016011.5(MECR):c.891+14A>G
NM_016011.5(MECR):c.891+36G>A
NM_016011.5(MECR):c.891+7T>C
NM_016011.5(MECR):c.892-12C>G
NM_016011.5(MECR):c.892-17C>A
NM_016011.5(MECR):c.892-5T>C
NM_016011.5(MECR):c.892-8G>A
NM_016011.5(MECR):c.910G>A (p.Asp304Asn)
NM_016011.5(MECR):c.915C>G (p.Leu305=)
NM_016011.5(MECR):c.923G>A (p.Arg308Gln)
NM_016011.5(MECR):c.945G>A (p.Trp315Ter) rs2151843502
NM_016011.5(MECR):c.960T>C (p.Ser320=)
NM_016011.5(MECR):c.964+12G>A
NM_016011.5(MECR):c.964+13C>T
NM_016011.5(MECR):c.964+14C>A
NM_016011.5(MECR):c.964+14C>T
NM_016011.5(MECR):c.964+19G>A
NM_016011.5(MECR):c.964+8C>A
NM_016011.5(MECR):c.964+8C>T
NM_016011.5(MECR):c.965-10C>T
NM_016011.5(MECR):c.965-4G>A
NM_016011.5(MECR):c.965-5C>T
NM_016011.5(MECR):c.969G>A (p.Gln323=)
NM_016011.5(MECR):c.96C>T (p.Ser32=)
NM_016011.5(MECR):c.976_977delinsTT (p.Glu326Leu) rs2151839069
NM_016011.5(MECR):c.98C>G (p.Ser33Cys) rs758771305
NM_016011.5(MECR):c.996C>T (p.Cys332=)
NM_016011.5(MECR):c.99C>A (p.Ser33=)

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