ClinVar Miner

List of variants in gene POLR1C reported by MyeliNeuroGene Lab, McGill University Health Center Research Institute

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029 0.00100
NM_203290.4(POLR1C):c.572G>A (p.Arg191Gln) rs373046018 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) rs796052127 0.00006
NM_203290.4(POLR1C):c.79A>G (p.Thr27Ala) rs144054843 0.00006
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) rs141156009 0.00006
NM_203290.4(POLR1C):c.733G>A (p.Val245Met) rs772343871 0.00004
NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser) rs371802902 0.00003
NM_203290.4(POLR1C):c.785T>C (p.Ile262Thr) rs751006626 0.00003
NM_203290.4(POLR1C):c.322C>T (p.His108Tyr) rs1015942660 0.00002
NM_203290.4(POLR1C):c.281T>C (p.Val94Ala) rs1305006253 0.00001
NM_203290.4(POLR1C):c.313A>T (p.Ile105Phe) rs770637715 0.00001
NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys) rs1255115751 0.00001
NM_203290.4(POLR1C):c.502G>A (p.Val168Met) rs773388338 0.00001
NM_203290.4(POLR1C):c.70-1G>A rs886041661 0.00001
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455 0.00001
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met) rs181576159 0.00001
NM_203290.4(POLR1C):c.349G>C (p.Ala117Pro) rs1582181247
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) rs201320592
NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg) rs796052125
NM_203290.4(POLR1C):c.461_462del (p.Lys154fs) rs770857344
NM_203290.4(POLR1C):c.616del (p.Gln206fs) rs1156407486
NM_203290.4(POLR1C):c.699C>G (p.Tyr233Ter) rs763593155
NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile) rs796052126
NM_203290.4(POLR1C):c.880AAG[1] (p.Lys295del) rs875989826
NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs) rs767639108
NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile) rs796052124
NM_203290.4(POLR1C):c.970G>A (p.Glu324Lys) rs1582184344

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.