ClinVar Miner

List of variants in gene MC2R reported as uncertain significance for Glucocorticoid deficiency 1

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Gene type:
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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000529.2(MC2R):c.*998T>A rs4797823 0.13235
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.*1002T>A rs761446119 0.01879
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.*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.*992A>T rs897474751 0.00074
NM_000529.2(MC2R):c.765G>A (p.Met255Ile) rs181640454 0.00062
NM_000529.2(MC2R):c.795C>T (p.Ile265=) rs141349908 0.00041
NM_000529.2(MC2R):c.537G>A (p.Thr179=) rs137893541 0.00025
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.*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.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.*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.403G>A (p.Ala135Thr) rs764887426 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.*1068A>G rs1053713890
NM_000529.2(MC2R):c.*1265A>C rs886053624
NM_000529.2(MC2R):c.*1469A>G rs1258255213
NM_000529.2(MC2R):c.*1667G>A rs886053621
NM_000529.2(MC2R):c.*1917C>A rs1005290429
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.409C>A (p.Arg137=) rs104894660
NM_000529.2(MC2R):c.524T>A (p.Val175Glu) rs886053651
NM_000529.2(MC2R):c.569T>G (p.Leu190Arg)
NM_000529.2(MC2R):c.666C>G (p.Thr222=) rs1401738616
NM_000529.2(MC2R):c.73G>A (p.Val25Ile)
NM_000529.2(MC2R):c.784G>A (p.Gly262Ser)

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