ClinVar Miner

List of variants in gene MC1R reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.3(MC1R):c.-1289C>T rs3212355 0.02355
NM_002386.4(MC1R):c.900C>T (p.Phe300=) rs3212367 0.01887
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.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.792C>T (p.Ile264=) rs181269865 0.00205
NM_002386.4(MC1R):c.819C>T (p.Cys273=) rs375813196 0.00148
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.637C>T (p.Arg213Trp) rs200000734 0.00066
NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter) rs201326893 0.00056
NM_002386.4(MC1R):c.364G>A (p.Val122Met) rs201192930 0.00048
NM_002386.4(MC1R):c.652G>A (p.Ala218Thr) rs200965363 0.00025
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.*13C>T rs373109025 0.00012
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.861C>G (p.Ile287Met) rs373957223 0.00010
NM_002386.4(MC1R):c.325C>T (p.Arg109Trp) rs546618600 0.00006
NM_002386.4(MC1R):c.189C>T (p.Ile63=) rs373344683 0.00005
NM_002386.3(MC1R):c.-550G>A rs372719558 0.00004
NM_002386.4(MC1R):c.101G>A (p.Arg34Gln) rs369016553 0.00004
NM_002386.4(MC1R):c.249G>A (p.Ser83=) rs375562624 0.00004
NM_002386.4(MC1R):c.556G>A (p.Val186Met) rs773260532 0.00004
NM_002386.4(MC1R):c.-32dup rs541142974
NM_002386.4(MC1R):c.169G>A (p.Ala57Thr) rs201632257
NM_002386.4(MC1R):c.326G>A (p.Arg109Gln) rs760458744
NM_002386.4(MC1R):c.417C>T (p.Ala139=) rs372929572
NM_002386.4(MC1R):c.651C>T (p.His217=) rs756060136
NM_002386.4(MC1R):c.815C>T (p.Thr272Met) rs12102534

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.