ClinVar Miner

List of variants in gene MC2R studied for Glucocorticoid deficiency 1

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Gene type:
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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_000529.2(MC2R):c.*1099A>T rs3888305 0.57649
NM_000529.2(MC2R):c.*685G>A rs4308014 0.56358
NM_000529.2(MC2R):c.*58G>A rs4797825 0.56131
NM_000529.2(MC2R):c.*2394C>G rs1940907 0.55774
NM_000529.2(MC2R):c.*615C>T rs4464147 0.37506
NM_000529.2(MC2R):c.*111G>A rs4797824 0.28031
NM_000529.2(MC2R):c.*998T>A rs4797823 0.13235
NM_000529.2(MC2R):c.*1896C>T rs28926188 0.11947
NM_000529.2(MC2R):c.*2138G>T rs3744819 0.10932
NM_000529.2(MC2R):c.*1885T>C rs3760536 0.07937
NM_000529.2(MC2R):c.*996A>T rs4996467 0.05839
NM_000529.2(MC2R):c.*1000T>A rs886053636 0.03268
NM_000529.2(MC2R):c.*880C>T rs28926184 0.03103
NM_000529.2(MC2R):c.833T>G (p.Phe278Cys) rs28926182 0.02378
NM_000529.2(MC2R):c.*1002T>A rs761446119 0.01879
NM_000529.2(MC2R):c.*2426T>C rs1940906 0.01815
NM_000529.2(MC2R):c.*1759C>A rs35547931 0.01767
NM_000529.2(MC2R):c.*1877A>G rs28926187 0.01558
NM_000529.2(MC2R):c.*427G>A rs150928586 0.01192
NM_000529.2(MC2R):c.*491A>G rs28926183 0.01176
NM_000529.2(MC2R):c.*1144G>A rs114107471 0.01117
NM_000529.2(MC2R):c.*1330A>G rs76459561 0.01105
NM_000529.2(MC2R):c.*2432A>C rs187121326 0.00999
NM_000529.2(MC2R):c.-44G>C rs28926177 0.00804
NM_000529.2(MC2R):c.-90T>C rs35534963 0.00657
NM_000529.2(MC2R):c.-94G>A rs34426564 0.00590
NM_000529.2(MC2R):c.*994A>T rs4996466 0.00471
NM_000529.2(MC2R):c.*990A>T rs993146709 0.00455
NM_000529.2(MC2R):c.*578C>A rs34482956 0.00404
NM_000529.2(MC2R):c.*1537A>G rs34722656 0.00332
NM_000529.2(MC2R):c.*1004T>A rs1313532679 0.00291
NM_000529.2(MC2R):c.*117A>T rs149746538 0.00237
NM_000529.2(MC2R):c.*582C>A rs34861769 0.00237
NM_000529.2(MC2R):c.*1452A>G rs34158267 0.00225
NM_000529.2(MC2R):c.133G>A (p.Val45Ile) rs148298654 0.00128
NM_000529.2(MC2R):c.429C>T (p.Thr143=) rs138421793 0.00127
NM_000529.2(MC2R):c.98C>T (p.Thr33Ile) rs559032155 0.00087
NM_000529.2(MC2R):c.*2528T>G rs150288954 0.00081
NM_000529.2(MC2R):c.*535G>C rs139176501 0.00080
NM_000529.2(MC2R):c.*992A>T rs897474751 0.00074
NM_000529.2(MC2R):c.765G>A (p.Met255Ile) rs181640454 0.00062
NM_000529.2(MC2R):c.*2065G>A rs193046675 0.00053
NM_000529.2(MC2R):c.795C>T (p.Ile265=) rs141349908 0.00041
NM_000529.2(MC2R):c.754G>A (p.Ala252Thr) rs554966392 0.00038
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658 0.00033
NM_000529.2(MC2R):c.537G>A (p.Thr179=) rs137893541 0.00025
NM_000529.2(MC2R):c.*2323C>T rs149107575 0.00023
NM_000529.2(MC2R):c.*1870A>G rs142781228 0.00021
NM_000529.2(MC2R):c.-129+10T>C rs750975919 0.00016
NM_000529.2(MC2R):c.21G>A (p.Ser7=) rs371151390 0.00016
NM_000529.2(MC2R):c.435C>T (p.Arg145=) rs369830440 0.00015
NM_000529.2(MC2R):c.*366G>T rs768500810 0.00012
NM_000529.2(MC2R):c.*673C>T rs1039130161 0.00011
NM_000529.2(MC2R):c.377C>T (p.Ala126Val) rs368669544 0.00011
NM_000529.2(MC2R):c.*1619G>A rs570920789 0.00009
NM_000529.2(MC2R):c.*911A>C rs886053643 0.00009
NM_000529.2(MC2R):c.*1274T>A rs886053623 0.00006
NM_000529.2(MC2R):c.*216G>A rs184146485 0.00006
NM_000529.2(MC2R):c.*406C>A rs553257738 0.00006
NM_000529.2(MC2R):c.808G>A (p.Val270Ile) rs769721256 0.00006
NM_000529.2(MC2R):c.*1039G>A rs966371778 0.00004
NM_000529.2(MC2R):c.*2224A>C rs551809146 0.00004
NM_000529.2(MC2R):c.410G>A (p.Arg137Gln) rs1208417750 0.00004
NM_000529.2(MC2R):c.*1092G>A rs886053625 0.00003
NM_000529.2(MC2R):c.*223T>C rs369247895 0.00003
NM_000529.2(MC2R):c.*390A>G rs749097541 0.00003
NM_000529.2(MC2R):c.*434T>C rs886053647 0.00003
NM_000529.2(MC2R):c.*848A>T rs766857800 0.00003
NM_000529.2(MC2R):c.*971G>C rs1317072974 0.00003
NM_000529.2(MC2R):c.360C>G (p.Ser120Arg) rs104894656 0.00003
NM_000529.2(MC2R):c.382C>T (p.Arg128Cys) rs104894657 0.00002
NM_000529.2(MC2R):c.*1856T>C rs935635102 0.00001
NM_000529.2(MC2R):c.*2409A>G rs893851558 0.00001
NM_000529.2(MC2R):c.*2427T>C rs2045235792 0.00001
NM_000529.2(MC2R):c.*27C>T rs886053650 0.00001
NM_000529.2(MC2R):c.*608A>G rs886053645 0.00001
NM_000529.2(MC2R):c.*791A>G rs754283731 0.00001
NM_000529.2(MC2R):c.319G>A (p.Asp107Asn) rs104894661 0.00001
NM_000529.2(MC2R):c.403G>A (p.Ala135Thr) rs764887426 0.00001
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp) rs104894660 0.00001
NM_000529.2(MC2R):c.437G>A (p.Arg146His) rs758709668 0.00001
NM_000529.2(MC2R):c.*1010T>A rs886053633
NM_000529.2(MC2R):c.*1012T>A rs886053632
NM_000529.2(MC2R):c.*1035G>A rs2045247559
NM_000529.2(MC2R):c.*1043G>A rs1007872828
NM_000529.2(MC2R):c.*1061C>A rs117631803
NM_000529.2(MC2R):c.*1068A>G rs1053713890
NM_000529.2(MC2R):c.*1265A>C rs886053624
NM_000529.2(MC2R):c.*1469A>G rs1258255213
NM_000529.2(MC2R):c.*1604G>C rs28926185
NM_000529.2(MC2R):c.*1667G>A rs886053621
NM_000529.2(MC2R):c.*1917C>A rs1005290429
NM_000529.2(MC2R):c.*1920T>A rs28926189
NM_000529.2(MC2R):c.*2572G>A rs2045234534
NM_000529.2(MC2R):c.*376G>C rs886053649
NM_000529.2(MC2R):c.*470G>A rs886053646
NM_000529.2(MC2R):c.*471C>A rs142527936
NM_000529.2(MC2R):c.*862T>C rs886053644
NM_000529.2(MC2R):c.*957C>G rs1053257976
NM_000529.2(MC2R):c.-117A>T rs886053652
NM_000529.2(MC2R):c.-48T>C rs559902243
NM_000529.2(MC2R):c.107T>A (p.Ile36Asn)
NM_000529.2(MC2R):c.349T>C (p.Ser117Pro)
NM_000529.2(MC2R):c.376G>T (p.Ala126Ser) rs267607231
NM_000529.2(MC2R):c.409C>A (p.Arg137=) rs104894660
NM_000529.2(MC2R):c.424G>T (p.Val142Leu) rs199950178
NM_000529.2(MC2R):c.459dup (p.Ile154fs) rs1555619430
NM_000529.2(MC2R):c.524T>A (p.Val175Glu) rs886053651
NM_000529.2(MC2R):c.548dup (p.Leu184fs)
NM_000529.2(MC2R):c.560del (p.Val187fs) rs1555619406
NM_000529.2(MC2R):c.569T>G (p.Leu190Arg)
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter) rs104894659
NM_000529.2(MC2R):c.652_653insA (p.Ala218fs)
NM_000529.2(MC2R):c.666C>G (p.Thr222=) rs1401738616
NM_000529.2(MC2R):c.674T>G (p.Leu225Arg) rs1555619377
NM_000529.2(MC2R):c.676G>A (p.Gly226Arg)
NM_000529.2(MC2R):c.676G>C (p.Gly226Arg) rs761911005
NM_000529.2(MC2R):c.681_688dup (p.Phe230fs) rs1567895448
NM_000529.2(MC2R):c.702del (p.Phe235fs) rs1555619372
NM_000529.2(MC2R):c.73G>A (p.Val25Ile)
NM_000529.2(MC2R):c.752G>T (p.Cys251Phe) rs104894662
NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys) rs28940892
NM_000529.2(MC2R):c.784G>A (p.Gly262Ser)
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178

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