ClinVar Miner

List of variants in gene MC1R reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.-273G>C rs575441534 0.00076
NM_002386.3(MC1R):c.-1263G>A rs569735993 0.00061
NM_002386.4(MC1R):c.112G>A (p.Val38Met) rs200050206 0.00040
NM_002386.4(MC1R):c.*739A>T rs765283788 0.00035
NM_002386.4(MC1R):c.*263C>T rs573848209 0.00029
NM_002386.4(MC1R):c.*545C>T rs558280878 0.00025
NM_002386.3(MC1R):c.-909A>G rs552688125 0.00024
NM_002386.4(MC1R):c.-338C>T rs540650422 0.00022
NM_002386.3(MC1R):c.-465C>G rs368262324 0.00016
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.-350C>G rs760702650 0.00014
NM_002386.3(MC1R):c.-1157A>C rs866750144 0.00010
NM_002386.4(MC1R):c.766C>T (p.Pro256Ser) rs200215218 0.00008
NM_002386.4(MC1R):c.725C>T (p.Thr242Ile) rs200051702 0.00007
NM_002386.3(MC1R):c.-1006G>T rs886052496 0.00006
NM_002386.3(MC1R):c.-723T>C rs886052499 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_002386.3(MC1R):c.-1142G>A rs886052495 0.00005
NM_002386.4(MC1R):c.*226G>A rs774718264 0.00005
NM_002386.3(MC1R):c.-1125C>T rs990435149 0.00004
NM_002386.3(MC1R):c.-1143C>T rs370238443 0.00004
NM_002386.4(MC1R):c.-344C>T rs1324313530 0.00004
NM_002386.3(MC1R):c.-1098C>T rs992299827 0.00003
NM_002386.4(MC1R):c.408C>T (p.Gly136=) rs1260091224 0.00003
NM_002386.3(MC1R):c.-1235A>T rs886052493 0.00002
NM_002386.4(MC1R):c.100C>T (p.Arg34Trp) rs376679503 0.00002
NM_002386.4(MC1R):c.496dup (p.Ala166fs) rs780875127 0.00002
NM_002386.4(MC1R):c.52C>G (p.Pro18Ala) rs776654211 0.00002
NM_002386.4(MC1R):c.729C>T (p.Leu243=) rs369402699 0.00002
NM_002386.3(MC1R):c.-1000G>C rs776494974 0.00001
NM_002386.3(MC1R):c.-1230C>T rs1597413824 0.00001
NM_002386.3(MC1R):c.-1243G>A rs926761363 0.00001
NM_002386.3(MC1R):c.-508C>T rs886052500 0.00001
NM_002386.3(MC1R):c.-722G>C rs2045679043 0.00001
NM_002386.3(MC1R):c.-966C>T rs900016691 0.00001
NM_002386.3(MC1R):c.-988A>C rs886052497 0.00001
NM_002386.4(MC1R):c.*620G>T rs886052511 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.66C>T (p.Pro22=) rs773395822 0.00001
NM_002386.4(MC1R):c.707G>A (p.Gly236Asp) rs1264795610 0.00001
NM_002386.4(MC1R):c.779A>T (p.His260Leu) rs763065230 0.00001
NM_002386.4(MC1R):c.951G>T (p.Trp317Cys) rs765813858 0.00001
NM_002386.3(MC1R):c.-1177G>C rs886052494
NM_002386.3(MC1R):c.-1209C>T rs866287374
NM_002386.3(MC1R):c.-1274G>C rs886052492
NM_002386.3(MC1R):c.-1307A>C rs886052491
NM_002386.3(MC1R):c.-504G>A rs553184868
NM_002386.3(MC1R):c.-567C>T rs932918344
NM_002386.3(MC1R):c.-600C>T rs868197501
NM_002386.3(MC1R):c.-784A>G rs2045678427
NM_002386.3(MC1R):c.-951G>A rs1296656392
NM_002386.3(MC1R):c.-952C>T rs531012890
NM_002386.3(MC1R):c.-975G>A rs886052498
NM_002386.4(MC1R):c.*113_*114del rs886052507
NM_002386.4(MC1R):c.*310C>G rs886052508
NM_002386.4(MC1R):c.*351T>C rs886052509
NM_002386.4(MC1R):c.*377G>C rs2045712709
NM_002386.4(MC1R):c.*501C>G rs776687782
NM_002386.4(MC1R):c.*598T>C rs886052510
NM_002386.4(MC1R):c.*59C>G rs938331667
NM_002386.4(MC1R):c.*683A>G rs2045716853
NM_002386.4(MC1R):c.*696G>C rs886052512
NM_002386.4(MC1R):c.-101G>T rs886052502
NM_002386.4(MC1R):c.-110A>C rs577907985
NM_002386.4(MC1R):c.-312_-310del rs886052501
NM_002386.4(MC1R):c.-98C>G rs886052503
NM_002386.4(MC1R):c.100C>A (p.Arg34=) rs376679503
NM_002386.4(MC1R):c.124G>C (p.Asp42His) rs2045690377
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.4(MC1R):c.628A>C (p.Met210Leu) rs749933929
NM_002386.4(MC1R):c.628A>G (p.Met210Val) rs749933929
NM_002386.4(MC1R):c.677A>G (p.Lys226Arg) rs2045702612
NM_002386.4(MC1R):c.86dup (p.Asn29fs) rs796296176
NM_002386.4(MC1R):c.97G>C (p.Ala33Pro) rs886052505

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