ClinVar Miner

List of variants in gene POLR3A reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.1393C>T (p.Gln465Ter) rs745418947 0.00001
NM_007055.4(POLR3A):c.147_148insT (p.Pro50fs) rs772708260 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter) rs750874617 0.00001
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755 0.00001
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter) rs755978559 0.00001
NM_007055.4(POLR3A):c.3669C>A (p.Tyr1223Ter) rs1337528878 0.00001
NM_007055.4(POLR3A):c.3688_3691dup (p.Asn1231delinsArgTer) rs1292401633 0.00001
NM_007055.4(POLR3A):c.601del (p.Ile201fs) rs777280350 0.00001
NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter) rs546487084 0.00001
NC_000010.10:g.(?_79737218)_(79745937_?)del
NC_000010.10:g.(?_79767440)_(79770318_?)del
NC_000010.10:g.(?_79780889)_(79784717_?)del
NC_000010.10:g.(?_79781284)_(79782162_?)del
NM_007055.4(POLR3A):c.112del (p.Ser38fs) rs2131961978
NM_007055.4(POLR3A):c.1325_1326del (p.Gln442fs)
NM_007055.4(POLR3A):c.1608dup (p.Pro537fs) rs2131950092
NM_007055.4(POLR3A):c.1738A>T (p.Lys580Ter)
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1784G>A (p.Trp595Ter)
NM_007055.4(POLR3A):c.1896_1897del (p.Ala633fs) rs1847443896
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.2163C>A (p.Tyr721Ter) rs2131945763
NM_007055.4(POLR3A):c.2176G>T (p.Glu726Ter)
NM_007055.4(POLR3A):c.2257_2278dup (p.Arg760fs) rs2131943863
NM_007055.4(POLR3A):c.2344del (p.Leu782fs)
NM_007055.4(POLR3A):c.2360_2364dup (p.Phe789fs)
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2631_2640del (p.Ser878fs)
NM_007055.4(POLR3A):c.2658T>A (p.Tyr886Ter) rs995590193
NM_007055.4(POLR3A):c.2671C>T (p.Arg891Ter)
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) rs747683665
NM_007055.4(POLR3A):c.3839dup (p.Met1280fs) rs2131926804
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs) rs1378008503
NM_007055.4(POLR3A):c.3951dup (p.Leu1318fs)
NM_007055.4(POLR3A):c.685C>T (p.Arg229Ter)

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.