ClinVar Miner

List of variants in gene MC1R reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 393
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HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.942A>G (p.Thr314=) rs2228478 0.20949
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln) rs885479 0.08396
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_002386.4(MC1R):c.274G>A (p.Val92Met) rs2228479 0.06520
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_002386.4(MC1R):c.900C>T (p.Phe300=) rs3212367 0.01887
NM_002386.4(MC1R):c.318G>A (p.Leu106=) rs3212364 0.01163
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_002386.4(MC1R):c.425G>A (p.Arg142His) rs11547464 0.00480
NM_002386.4(MC1R):c.466G>C (p.Val156Leu) rs3212365 0.00443
NM_002386.4(MC1R):c.948C>T (p.Ser316=) rs151318945 0.00223
NM_002386.4(MC1R):c.699G>A (p.Gln233=) rs146544450 0.00218
NM_002386.4(MC1R):c.792C>T (p.Ile264=) rs181269865 0.00205
NM_002386.4(MC1R):c.531G>A (p.Thr177=) rs145781072 0.00148
NM_002386.4(MC1R):c.819C>T (p.Cys273=) rs375813196 0.00148
NM_002386.4(MC1R):c.67C>T (p.Gln23Ter) rs201533137 0.00144
NM_002386.4(MC1R):c.399C>T (p.Cys133=) rs201429598 0.00105
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr) rs33932559 0.00103
NM_002386.4(MC1R):c.309C>T (p.Ala103=) rs140650544 0.00087
NM_002386.4(MC1R):c.453C>G (p.Arg151=) rs201827012 0.00079
NM_002386.4(MC1R):c.247T>C (p.Ser83Pro) rs34474212 0.00069
NM_002386.4(MC1R):c.537dup (p.Ile180fs) rs555179612 0.00067
NM_002386.4(MC1R):c.637C>T (p.Arg213Trp) rs200000734 0.00066
NM_002386.4(MC1R):c.633G>A (p.Leu211=) rs34564466 0.00061
NM_002386.4(MC1R):c.284C>T (p.Thr95Met) rs34158934 0.00056
NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter) rs201326893 0.00056
NM_002386.4(MC1R):c.842A>G (p.Asn281Ser) rs141177570 0.00050
NM_002386.4(MC1R):c.364G>A (p.Val122Met) rs201192930 0.00048
NM_002386.4(MC1R):c.140G>T (p.Ser47Ile) rs371156858 0.00044
NM_002386.4(MC1R):c.112G>A (p.Val38Met) rs200050206 0.00040
NM_002386.4(MC1R):c.133T>C (p.Phe45Leu) rs61996344 0.00039
NM_002386.4(MC1R):c.401T>C (p.Phe134Ser) rs564161331 0.00039
NM_002386.4(MC1R):c.555C>T (p.His185=) rs199920775 0.00030
NM_002386.4(MC1R):c.333G>A (p.Ala111=) rs368745976 0.00028
NM_002386.4(MC1R):c.652G>A (p.Ala218Thr) rs200965363 0.00025
NM_002386.4(MC1R):c.127G>A (p.Gly43Arg) rs564999211 0.00024
NM_002386.4(MC1R):c.200G>A (p.Arg67Gln) rs34090186 0.00024
NM_002386.4(MC1R):c.832A>G (p.Lys278Glu) rs201171524 0.00023
NM_002386.4(MC1R):c.332C>T (p.Ala111Val) rs201489928 0.00021
NM_002386.4(MC1R):c.363C>G (p.Asp121Glu) rs200616835 0.00019
NM_002386.4(MC1R):c.512C>G (p.Ala171Gly) rs373224783 0.00019
NM_002386.4(MC1R):c.546C>T (p.Tyr182=) rs370040645 0.00019
NM_002386.4(MC1R):c.190G>A (p.Ala64Thr) rs368501338 0.00018
NM_002386.4(MC1R):c.492C>T (p.Ala164=) rs367985661 0.00016
NM_002386.4(MC1R):c.895G>A (p.Ala299Thr) rs370472871 0.00016
NM_002386.4(MC1R):c.917G>A (p.Arg306His) rs368507952 0.00016
NM_002386.4(MC1R):c.444C>T (p.Tyr148=) rs370441592 0.00014
NM_002386.4(MC1R):c.837C>A (p.Asn279Lys) rs202197434 0.00014
NM_002386.4(MC1R):c.894C>T (p.Tyr298=) rs143395134 0.00014
NM_002386.4(MC1R):c.102G>C (p.Arg34=) rs758135673 0.00013
NM_002386.4(MC1R):c.497C>G (p.Ala166Gly) rs35040147 0.00013
NM_002386.4(MC1R):c.717C>T (p.Gly239=) rs34490506 0.00012
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_002386.4(MC1R):c.577G>A (p.Val193Met) rs527673999 0.00011
NM_002386.4(MC1R):c.803C>G (p.Pro268Arg) rs527697723 0.00010
NM_002386.4(MC1R):c.861C>G (p.Ile287Met) rs373957223 0.00010
NM_002386.4(MC1R):c.392G>A (p.Ser131Asn) rs370094672 0.00009
NM_002386.4(MC1R):c.414C>T (p.Ile138=) rs377411334 0.00009
NM_002386.4(MC1R):c.498G>A (p.Ala166=) rs374959395 0.00008
NM_002386.4(MC1R):c.766C>T (p.Pro256Ser) rs200215218 0.00008
NM_002386.4(MC1R):c.445G>A (p.Ala149Thr) rs374423188 0.00007
NM_002386.4(MC1R):c.467T>C (p.Val156Ala) rs201975178 0.00007
NM_002386.4(MC1R):c.476C>T (p.Pro159Leu) rs779593625 0.00007
NM_002386.4(MC1R):c.56C>T (p.Thr19Ile) rs372041071 0.00007
NM_002386.4(MC1R):c.725C>T (p.Thr242Ile) rs200051702 0.00007
NM_002386.4(MC1R):c.168C>T (p.Asn56=) rs373707533 0.00006
NM_002386.4(MC1R):c.310G>A (p.Gly104Ser) rs2229617 0.00006
NM_002386.4(MC1R):c.325C>T (p.Arg109Trp) rs546618600 0.00006
NM_002386.4(MC1R):c.383T>C (p.Met128Thr) rs374235260 0.00006
NM_002386.4(MC1R):c.424C>T (p.Arg142Cys) rs752927306 0.00006
NM_002386.4(MC1R):c.483G>A (p.Ala161=) rs541831292 0.00006
NM_002386.4(MC1R):c.582C>T (p.Val194=) rs373597800 0.00006
NM_002386.4(MC1R):c.793G>A (p.Val265Ile) rs587783376 0.00006
NM_002386.4(MC1R):c.479G>A (p.Arg160Gln) rs780813746 0.00005
NM_002386.4(MC1R):c.640G>A (p.Ala214Thr) rs752618291 0.00005
NM_002386.4(MC1R):c.689C>T (p.Pro230Leu) rs368714912 0.00005
NM_002386.4(MC1R):c.787C>T (p.Leu263Phe) rs370073863 0.00005
NM_002386.4(MC1R):c.860T>G (p.Ile287Ser) rs753749977 0.00005
NM_002386.4(MC1R):c.944G>C (p.Cys315Ser) rs377248188 0.00005
NM_002386.4(MC1R):c.101G>A (p.Arg34Gln) rs369016553 0.00004
NM_002386.4(MC1R):c.126C>T (p.Asp42=) rs373241401 0.00004
NM_002386.4(MC1R):c.171G>A (p.Ala57=) rs774456071 0.00004
NM_002386.4(MC1R):c.241G>C (p.Ala81Pro) rs772286882 0.00004
NM_002386.4(MC1R):c.248C>T (p.Ser83Leu) rs777024553 0.00004
NM_002386.4(MC1R):c.249G>A (p.Ser83=) rs375562624 0.00004
NM_002386.4(MC1R):c.285G>A (p.Thr95=) rs573416648 0.00004
NM_002386.4(MC1R):c.294C>T (p.Ile98=) rs373401179 0.00004
NM_002386.4(MC1R):c.459C>T (p.His153=) rs762670523 0.00004
NM_002386.4(MC1R):c.484C>T (p.Arg162Trp) rs553516665 0.00004
NM_002386.4(MC1R):c.508G>A (p.Val170Met) rs770551931 0.00004
NM_002386.4(MC1R):c.556G>A (p.Val186Met) rs773260532 0.00004
NM_002386.4(MC1R):c.561C>T (p.Ala187=) rs370306913 0.00004
NM_002386.4(MC1R):c.576C>G (p.Leu192=) rs566784469 0.00004
NM_002386.4(MC1R):c.663C>T (p.Ile221=) rs375672150 0.00004
NM_002386.4(MC1R):c.815_817dup (p.Thr272_Cys273insSer) rs750200309 0.00004
NM_002386.4(MC1R):c.836A>G (p.Asn279Ser) rs376692024 0.00004
NM_002386.4(MC1R):c.854C>G (p.Ala285Gly) rs773094322 0.00004
NM_002386.4(MC1R):c.865T>C (p.Cys289Arg) rs369542041 0.00004
NM_002386.4(MC1R):c.923C>T (p.Thr308Met) rs375127718 0.00004
NM_002386.4(MC1R):c.945C>T (p.Cys315=) rs1362807899 0.00004
NM_002386.4(MC1R):c.949T>C (p.Trp317Arg) rs762063106 0.00004
NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr) rs779504604 0.00003
NM_002386.4(MC1R):c.199C>T (p.Arg67Trp) rs372590533 0.00003
NM_002386.4(MC1R):c.219G>A (p.Met73Ile) rs755918287 0.00003
NM_002386.4(MC1R):c.288C>T (p.Ala96=) rs780284801 0.00003
NM_002386.4(MC1R):c.292A>G (p.Ile98Val) rs373341896 0.00003
NM_002386.4(MC1R):c.418G>A (p.Val140Met) rs376709880 0.00003
NM_002386.4(MC1R):c.465C>T (p.Ile155=) rs374878766 0.00003
NM_002386.4(MC1R):c.482C>T (p.Ala161Val) rs574552620 0.00003
NM_002386.4(MC1R):c.520G>A (p.Val174Ile) rs762183931 0.00003
NM_002386.4(MC1R):c.550G>A (p.Asp184Asn) rs530102853 0.00003
NM_002386.4(MC1R):c.668G>A (p.Arg223Gln) rs769200898 0.00003
NM_002386.4(MC1R):c.828C>T (p.Ile276=) rs1310618630 0.00003
NM_002386.4(MC1R):c.892T>C (p.Tyr298His) rs772969877 0.00003
NM_002386.4(MC1R):c.100C>T (p.Arg34Trp) rs376679503 0.00002
NM_002386.4(MC1R):c.152T>C (p.Val51Ala) rs766080391 0.00002
NM_002386.4(MC1R):c.207G>A (p.Leu69=) rs765848904 0.00002
NM_002386.4(MC1R):c.217A>G (p.Met73Val) rs371458749 0.00002
NM_002386.4(MC1R):c.366G>A (p.Val122=) rs372353477 0.00002
NM_002386.4(MC1R):c.477G>A (p.Pro159=) rs750978167 0.00002
NM_002386.4(MC1R):c.496dup (p.Ala166fs) rs780875127 0.00002
NM_002386.4(MC1R):c.510G>A (p.Val170=) rs778831502 0.00002
NM_002386.4(MC1R):c.52C>G (p.Pro18Ala) rs776654211 0.00002
NM_002386.4(MC1R):c.540C>T (p.Ile180=) rs371055548 0.00002
NM_002386.4(MC1R):c.583T>G (p.Phe195Val) rs377580634 0.00002
NM_002386.4(MC1R):c.686G>A (p.Arg229His) rs376780075 0.00002
NM_002386.4(MC1R):c.690G>A (p.Pro230=) rs752526626 0.00002
NM_002386.4(MC1R):c.729C>T (p.Leu243=) rs369402699 0.00002
NM_002386.4(MC1R):c.764G>A (p.Gly255Asp) rs760466103 0.00002
NM_002386.4(MC1R):c.820G>A (p.Gly274Ser) rs748521098 0.00002
NM_002386.4(MC1R):c.869A>G (p.Asn290Ser) rs373703770 0.00002
NM_002386.4(MC1R):c.896C>T (p.Ala299Val) rs752932359 0.00002
NM_002386.4(MC1R):c.914T>G (p.Leu305Arg) rs780650451 0.00002
NM_002386.4(MC1R):c.935T>C (p.Val312Ala) rs745994833 0.00002
NM_002386.4(MC1R):c.123dup (p.Asp42Ter) rs1567757953 0.00001
NM_002386.4(MC1R):c.143T>C (p.Leu48Pro) rs201787533 0.00001
NM_002386.4(MC1R):c.150G>A (p.Leu50=) rs372371887 0.00001
NM_002386.4(MC1R):c.159G>C (p.Leu53Phe) rs754647280 0.00001
NM_002386.4(MC1R):c.169dup (p.Ala57fs) rs746511891 0.00001
NM_002386.4(MC1R):c.193A>G (p.Lys65Glu) rs1164849246 0.00001
NM_002386.4(MC1R):c.208C>T (p.His70Tyr) rs377122753 0.00001
NM_002386.4(MC1R):c.213A>G (p.Ser71=) rs767278343 0.00001
NM_002386.4(MC1R):c.223T>C (p.Cys75Arg) rs963182706 0.00001
NM_002386.4(MC1R):c.23G>A (p.Arg8Lys) rs554831935 0.00001
NM_002386.4(MC1R):c.255G>C (p.Leu85=) rs1597414901 0.00001
NM_002386.4(MC1R):c.313G>A (p.Ala105Thr) rs1376244060 0.00001
NM_002386.4(MC1R):c.334G>A (p.Val112Met) rs750319061 0.00001
NM_002386.4(MC1R):c.357C>A (p.Val119=) rs755222490 0.00001
NM_002386.4(MC1R):c.35G>A (p.Gly12Asp) rs373990019 0.00001
NM_002386.4(MC1R):c.406G>T (p.Gly136Cys) rs1209087043 0.00001
NM_002386.4(MC1R):c.415G>A (p.Ala139Thr) rs765120108 0.00001
NM_002386.4(MC1R):c.423C>T (p.Asp141=) rs755031236 0.00001
NM_002386.4(MC1R):c.470C>T (p.Thr157Ile) rs104894524 0.00001
NM_002386.4(MC1R):c.48C>T (p.Ser16=) rs1410997617 0.00001
NM_002386.4(MC1R):c.493G>A (p.Val165Ile) rs762096175 0.00001
NM_002386.4(MC1R):c.549C>T (p.Tyr183=) rs34209185 0.00001
NM_002386.4(MC1R):c.562G>A (p.Val188Ile) rs774680166 0.00001
NM_002386.4(MC1R):c.598C>T (p.Leu200=) rs879937669 0.00001
NM_002386.4(MC1R):c.612C>T (p.Ala204=) rs773313328 0.00001
NM_002386.4(MC1R):c.613G>A (p.Val205Met) rs749525002 0.00001
NM_002386.4(MC1R):c.615G>A (p.Val205=) rs1385523658 0.00001
NM_002386.4(MC1R):c.623T>C (p.Val208Ala) rs775798496 0.00001
NM_002386.4(MC1R):c.625C>T (p.His209Tyr) rs761210287 0.00001
NM_002386.4(MC1R):c.638G>A (p.Arg213Gln) rs781311501 0.00001
NM_002386.4(MC1R):c.653C>G (p.Ala218Gly) rs749385653 0.00001
NM_002386.4(MC1R):c.662T>C (p.Ile221Thr) rs371906898 0.00001
NM_002386.4(MC1R):c.664G>A (p.Ala222Thr) rs369807854 0.00001
NM_002386.4(MC1R):c.66C>T (p.Pro22=) rs773395822 0.00001
NM_002386.4(MC1R):c.670C>T (p.Leu224Phe) rs772601310 0.00001
NM_002386.4(MC1R):c.687C>T (p.Arg229=) rs372852841 0.00001
NM_002386.4(MC1R):c.718G>A (p.Ala240Thr) rs778930648 0.00001
NM_002386.4(MC1R):c.726C>T (p.Thr242=) rs780347303 0.00001
NM_002386.4(MC1R):c.727C>G (p.Leu243Val) rs1414374650 0.00001
NM_002386.4(MC1R):c.755T>A (p.Leu252His) rs767276470 0.00001
NM_002386.4(MC1R):c.761G>A (p.Trp254Ter) rs924429375 0.00001
NM_002386.4(MC1R):c.768C>T (p.Pro256=) rs757162834 0.00001
NM_002386.4(MC1R):c.76C>G (p.Leu26Val) rs777400906 0.00001
NM_002386.4(MC1R):c.779A>T (p.His260Leu) rs763065230 0.00001
NM_002386.4(MC1R):c.804C>T (p.Pro268=) rs760209791 0.00001
NM_002386.4(MC1R):c.805G>A (p.Glu269Lys) rs552512218 0.00001
NM_002386.4(MC1R):c.816G>A (p.Thr272=) rs374760264 0.00001
NM_002386.4(MC1R):c.823T>C (p.Cys275Arg) rs1398171215 0.00001
NM_002386.4(MC1R):c.852C>T (p.Leu284=) rs550480383 0.00001
NM_002386.4(MC1R):c.853G>A (p.Ala285Thr) rs914341120 0.00001
NM_002386.4(MC1R):c.879C>T (p.Ile293=) rs779680061 0.00001
NM_002386.4(MC1R):c.897C>T (p.Ala299=) rs760953265 0.00001
NM_002386.4(MC1R):c.898T>G (p.Phe300Val) rs1413138979 0.00001
NM_002386.4(MC1R):c.916C>T (p.Arg306Cys) rs747847234 0.00001
NM_002386.4(MC1R):c.924G>A (p.Thr308=) rs748972076 0.00001
NM_002386.4(MC1R):c.925C>G (p.Leu309Val) rs1360082988 0.00001
NM_002386.4(MC1R):c.951G>T (p.Trp317Cys) rs765813858 0.00001
NC_000016.10:g.(?_89919259)_(89920212_?)del
NC_000016.9:g.(?_89986211)_89987210del
NM_002386.4(MC1R):c.-11_19del (p.Met1_Gln7del)
NM_002386.4(MC1R):c.104G>T (p.Cys35Phe) rs779504604
NM_002386.4(MC1R):c.106C>G (p.Leu36Val)
NM_002386.4(MC1R):c.10C>T (p.Gln4Ter) rs2045688422
NM_002386.4(MC1R):c.118A>C (p.Ile40Leu) rs1555623738
NM_002386.4(MC1R):c.11A>T (p.Gln4Leu)
NM_002386.4(MC1R):c.120C>T (p.Ile40=) rs1555623739
NM_002386.4(MC1R):c.122C>A (p.Ser41Tyr)
NM_002386.4(MC1R):c.122C>G (p.Ser41Cys)
NM_002386.4(MC1R):c.129G>C (p.Gly43=)
NM_002386.4(MC1R):c.135C>G (p.Phe45Leu)
NM_002386.4(MC1R):c.136C>T (p.Leu46Phe)
NM_002386.4(MC1R):c.146G>A (p.Gly49Glu) rs764580616
NM_002386.4(MC1R):c.157T>C (p.Leu53=)
NM_002386.4(MC1R):c.158TGG[1] (p.Val54del)
NM_002386.4(MC1R):c.169G>A (p.Ala57Thr) rs201632257
NM_002386.4(MC1R):c.175G>T (p.Val59Leu) rs1410281892
NM_002386.4(MC1R):c.181G>A (p.Ala61Thr)
NM_002386.4(MC1R):c.185_193del (p.Thr62_Ala64del)
NM_002386.4(MC1R):c.188T>C (p.Ile63Thr) rs2045691961
NM_002386.4(MC1R):c.189C>G (p.Ile63Met)
NM_002386.4(MC1R):c.190G>C (p.Ala64Pro) rs368501338
NM_002386.4(MC1R):c.190_191insTGGAGAACGCGCTGGTGGTGGCCACCGTCG (p.Ile63_Ala64insValGluAsnAlaLeuValValAlaThrVal) rs2045691984
NM_002386.4(MC1R):c.199C>A (p.Arg67=) rs372590533
NM_002386.4(MC1R):c.205C>G (p.Leu69Val) rs2144391217
NM_002386.4(MC1R):c.207G>C (p.Leu69=)
NM_002386.4(MC1R):c.209A>C (p.His70Pro)
NM_002386.4(MC1R):c.20A>G (p.Gln7Arg) rs781549818
NM_002386.4(MC1R):c.210C>T (p.His70=)
NM_002386.4(MC1R):c.22AGA[1] (p.Arg9del)
NM_002386.4(MC1R):c.231C>G (p.Ile77Met)
NM_002386.4(MC1R):c.238C>T (p.Leu80=) rs2144391307
NM_002386.4(MC1R):c.262A>G (p.Ser88Gly) rs2144391372
NM_002386.4(MC1R):c.264C>T (p.Ser88=)
NM_002386.4(MC1R):c.265G>A (p.Gly89Arg) rs34540312
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.4(MC1R):c.267G>A (p.Gly89=)
NM_002386.4(MC1R):c.273_274delinsGA (p.Asn91_Val92delinsLysMet)
NM_002386.4(MC1R):c.284C>G (p.Thr95Arg)
NM_002386.4(MC1R):c.294CCT[1] (p.Leu101del) rs754573808
NM_002386.4(MC1R):c.30_46del (p.Leu11fs)
NM_002386.4(MC1R):c.318G>T (p.Leu106=) rs3212364
NM_002386.4(MC1R):c.319del (p.Val107fs) rs2144391577
NM_002386.4(MC1R):c.323C>A (p.Ala108Asp)
NM_002386.4(MC1R):c.326G>A (p.Arg109Gln) rs760458744
NM_002386.4(MC1R):c.330T>C (p.Ala110=) rs377050541
NM_002386.4(MC1R):c.331G>A (p.Ala111Thr) rs2144391623
NM_002386.4(MC1R):c.337C>T (p.Leu113=)
NM_002386.4(MC1R):c.348G>A (p.Leu116=)
NM_002386.4(MC1R):c.350A>G (p.Asp117Gly)
NM_002386.4(MC1R):c.357C>T (p.Val119=)
NM_002386.4(MC1R):c.363C>T (p.Asp121=) rs200616835
NM_002386.4(MC1R):c.366G>C (p.Val122=)
NM_002386.4(MC1R):c.372C>G (p.Thr124=) rs1362732149
NM_002386.4(MC1R):c.382A>G (p.Met128Val)
NM_002386.4(MC1R):c.389C>G (p.Ser130Cys) rs377025135
NM_002386.4(MC1R):c.396C>T (p.Leu132=) rs1060504133
NM_002386.4(MC1R):c.409G>A (p.Ala137Thr) rs1484000912
NM_002386.4(MC1R):c.415G>T (p.Ala139Ser)
NM_002386.4(MC1R):c.416C>G (p.Ala139Gly) rs1217897117
NM_002386.4(MC1R):c.417C>G (p.Ala139=) rs372929572
NM_002386.4(MC1R):c.417C>T (p.Ala139=) rs372929572
NM_002386.4(MC1R):c.422A>T (p.Asp141Val)
NM_002386.4(MC1R):c.424C>A (p.Arg142Ser) rs752927306
NM_002386.4(MC1R):c.426C>G (p.Arg142=)
NM_002386.4(MC1R):c.438C>T (p.Ile146=)
NM_002386.4(MC1R):c.439T>C (p.Phe147Leu)
NM_002386.4(MC1R):c.44A>C (p.Asn15Thr) rs771596986
NM_002386.4(MC1R):c.450G>C (p.Leu150=) rs2045696881
NM_002386.4(MC1R):c.452G>A (p.Arg151His)
NM_002386.4(MC1R):c.45C>G (p.Asn15Lys) rs1271566138
NM_002386.4(MC1R):c.461G>T (p.Ser154Ile)
NM_002386.4(MC1R):c.466G>A (p.Val156Met)
NM_002386.4(MC1R):c.471C>T (p.Thr157=)
NM_002386.4(MC1R):c.480G>T (p.Arg160=)
NM_002386.4(MC1R):c.487C>T (p.Arg163Ter) rs771897011
NM_002386.4(MC1R):c.491C>G (p.Ala164Gly)
NM_002386.4(MC1R):c.497C>T (p.Ala166Val) rs35040147
NM_002386.4(MC1R):c.4G>T (p.Ala2Ser)
NM_002386.4(MC1R):c.504C>G (p.Ile168Met) rs34612847
NM_002386.4(MC1R):c.504C>T (p.Ile168=) rs34612847
NM_002386.4(MC1R):c.506G>A (p.Trp169Ter)
NM_002386.4(MC1R):c.50C>A (p.Thr17Asn)
NM_002386.4(MC1R):c.511G>T (p.Ala171Ser)
NM_002386.4(MC1R):c.512C>A (p.Ala171Asp) rs373224783
NM_002386.4(MC1R):c.513C>T (p.Ala171=) rs775239171
NM_002386.4(MC1R):c.517GTC[1] (p.Val174del) rs747777879
NM_002386.4(MC1R):c.519C>T (p.Val173=)
NM_002386.4(MC1R):c.530C>T (p.Thr177Met)
NM_002386.4(MC1R):c.534C>T (p.Leu178=) rs766933388
NM_002386.4(MC1R):c.541G>A (p.Ala181Thr)
NM_002386.4(MC1R):c.541G>C (p.Ala181Pro)
NM_002386.4(MC1R):c.542C>G (p.Ala181Gly)
NM_002386.4(MC1R):c.544_*593del (p.Tyr182fs)
NM_002386.4(MC1R):c.545_*590del (p.Tyr182fs) rs1555623833
NM_002386.4(MC1R):c.547T>G (p.Tyr183Asp)
NM_002386.4(MC1R):c.54del (p.Thr19fs) rs2045689133
NM_002386.4(MC1R):c.550G>C (p.Asp184His) rs530102853
NM_002386.4(MC1R):c.551A>C (p.Asp184Ala) rs748173401
NM_002386.4(MC1R):c.551A>G (p.Asp184Gly)
NM_002386.4(MC1R):c.564C>A (p.Val188=)
NM_002386.4(MC1R):c.565C>T (p.Leu189=)
NM_002386.4(MC1R):c.567G>T (p.Leu189=)
NM_002386.4(MC1R):c.568C>T (p.Leu190=)
NM_002386.4(MC1R):c.584_585delinsAG (p.Phe195Ter)
NM_002386.4(MC1R):c.585C>T (p.Phe195=)
NM_002386.4(MC1R):c.586T>G (p.Phe196Val)
NM_002386.4(MC1R):c.593C>T (p.Ala198Val) rs1437472612
NM_002386.4(MC1R):c.602T>C (p.Val201Ala)
NM_002386.4(MC1R):c.608T>C (p.Met203Thr) rs769723368
NM_002386.4(MC1R):c.621C>T (p.Tyr207=) rs538459120
NM_002386.4(MC1R):c.622G>T (p.Val208Phe) rs775933691
NM_002386.4(MC1R):c.634G>T (p.Ala212Ser)
NM_002386.4(MC1R):c.63C>T (p.Ile21=) rs2144390786
NM_002386.4(MC1R):c.645C>A (p.Cys215Ter) rs878854501
NM_002386.4(MC1R):c.651C>T (p.His217=) rs756060136
NM_002386.4(MC1R):c.654C>T (p.Ala218=)
NM_002386.4(MC1R):c.659G>A (p.Gly220Asp) rs1567758442
NM_002386.4(MC1R):c.664G>C (p.Ala222Pro) rs369807854
NM_002386.4(MC1R):c.664G>T (p.Ala222Ser) rs369807854
NM_002386.4(MC1R):c.664_665delinsTA (p.Ala222Tyr) rs2144392750
NM_002386.4(MC1R):c.667C>G (p.Arg223Gly)
NM_002386.4(MC1R):c.667C>T (p.Arg223Trp) rs372152373
NM_002386.4(MC1R):c.670_691del (p.Leu224fs) rs772551710
NM_002386.4(MC1R):c.676A>T (p.Lys226Ter)
NM_002386.4(MC1R):c.685del (p.Arg229fs)
NM_002386.4(MC1R):c.686_688dup (p.Arg229_Pro230insArg)
NM_002386.4(MC1R):c.687_690dup (p.Val231fs) rs2144392802
NM_002386.4(MC1R):c.698A>C (p.Gln233Pro) rs2144392840
NM_002386.4(MC1R):c.698dup (p.Phe235fs) rs1555623867
NM_002386.4(MC1R):c.719C>T (p.Ala240Val) rs1384239934
NM_002386.4(MC1R):c.723C>T (p.Val241=)
NM_002386.4(MC1R):c.724A>G (p.Thr242Ala) rs2045703274
NM_002386.4(MC1R):c.726C>G (p.Thr242=)
NM_002386.4(MC1R):c.730A>C (p.Thr244Pro)
NM_002386.4(MC1R):c.730A>G (p.Thr244Ala)
NM_002386.4(MC1R):c.743G>A (p.Gly248Asp)
NM_002386.4(MC1R):c.74G>A (p.Gly25Glu) rs540424761
NM_002386.4(MC1R):c.751T>G (p.Phe251Val)
NM_002386.4(MC1R):c.753C>A (p.Phe251Leu) rs561571645
NM_002386.4(MC1R):c.753C>T (p.Phe251=)
NM_002386.4(MC1R):c.75G>T (p.Gly25=)
NM_002386.4(MC1R):c.769TTC[1] (p.Phe258del)
NM_002386.4(MC1R):c.778C>T (p.His260Tyr)
NM_002386.4(MC1R):c.786A>G (p.Thr262=)
NM_002386.4(MC1R):c.786_787del (p.Leu263fs) rs2144393056
NM_002386.4(MC1R):c.787C>G (p.Leu263Val)
NM_002386.4(MC1R):c.790A>C (p.Ile264Leu) rs1044424142
NM_002386.4(MC1R):c.790A>G (p.Ile264Val)
NM_002386.4(MC1R):c.795C>G (p.Val265=) rs367998996
NM_002386.4(MC1R):c.795C>T (p.Val265=) rs367998996
NM_002386.4(MC1R):c.7G>A (p.Val3Met) rs2045688399
NM_002386.4(MC1R):c.800G>A (p.Cys267Tyr)
NM_002386.4(MC1R):c.800G>T (p.Cys267Phe) rs1555623887
NM_002386.4(MC1R):c.803C>T (p.Pro268Leu) rs527697723
NM_002386.4(MC1R):c.811C>G (p.Pro271Ala)
NM_002386.4(MC1R):c.813del (p.Thr272fs) rs2045705046
NM_002386.4(MC1R):c.815C>T (p.Thr272Met) rs12102534
NM_002386.4(MC1R):c.815_826del (p.Thr272_Cys275del) rs765016133
NM_002386.4(MC1R):c.831C>G (p.Phe277Leu) rs778370171
NM_002386.4(MC1R):c.833A>G (p.Lys278Arg)
NM_002386.4(MC1R):c.840C>A (p.Phe280Leu)
NM_002386.4(MC1R):c.847T>A (p.Phe283Ile)
NM_002386.4(MC1R):c.847T>C (p.Phe283Leu)
NM_002386.4(MC1R):c.855C>T (p.Ala285=)
NM_002386.4(MC1R):c.856C>T (p.Leu286Phe) rs925012763
NM_002386.4(MC1R):c.859ATC[1] (p.Ile288del) rs762901370
NM_002386.4(MC1R):c.861C>T (p.Ile287=) rs373957223
NM_002386.4(MC1R):c.862A>G (p.Ile288Val) rs1365355512
NM_002386.4(MC1R):c.864C>G (p.Ile288Met)
NM_002386.4(MC1R):c.868A>T (p.Asn290Tyr)
NM_002386.4(MC1R):c.86A>G (p.Asn29Ser)
NM_002386.4(MC1R):c.86dup (p.Asn29fs) rs796296176
NM_002386.4(MC1R):c.873C>T (p.Ala291=)
NM_002386.4(MC1R):c.875T>C (p.Ile292Thr)
NM_002386.4(MC1R):c.880G>A (p.Asp294Asn) rs1805009
NM_002386.4(MC1R):c.880G>T (p.Asp294Tyr)
NM_002386.4(MC1R):c.882C>T (p.Asp294=)
NM_002386.4(MC1R):c.883C>G (p.Pro295Ala) rs1037285800
NM_002386.4(MC1R):c.883C>T (p.Pro295Ser)
NM_002386.4(MC1R):c.887_888del (p.Leu296fs)
NM_002386.4(MC1R):c.88C>T (p.Gln30Ter)
NM_002386.4(MC1R):c.894_895insATCGACCCCCTCATCCTG (p.Tyr298_Ala299insIleAspProLeuIleLeu)
NM_002386.4(MC1R):c.895G>T (p.Ala299Ser) rs370472871
NM_002386.4(MC1R):c.911A>T (p.Glu304Val)
NM_002386.4(MC1R):c.920_923delinsCT (p.Arg307fs) rs2045707558
NM_002386.4(MC1R):c.927C>G (p.Leu309=) rs1215576125
NM_002386.4(MC1R):c.937C>T (p.Leu313=)
NM_002386.4(MC1R):c.939G>C (p.Leu313=)
NM_002386.4(MC1R):c.943T>C (p.Cys315Arg)
NM_002386.4(MC1R):c.946T>C (p.Ser316Pro) rs2045708038
NM_002386.4(MC1R):c.951G>A (p.Trp317Ter)
NM_002386.4(MC1R):c.951dup (p.Ter318ValextTer?)
NM_002386.4(MC1R):c.954_*8del (p.Ter318Xaa) rs2045708145
NM_002386.4(MC1R):c.96_102del (p.Arg34fs)
NM_002386.4(MC1R):c.98C>T (p.Ala33Val) rs1215465340

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