ClinVar Miner

List of variants in gene POLR3A reported as benign by Invitae

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.3594+11A>C rs10509396 0.06976
NM_007055.4(POLR3A):c.2997G>T (p.Val999=) rs12241228 0.05870
NM_007055.4(POLR3A):c.2286C>T (p.His762=) rs16935534 0.03554
NM_007055.4(POLR3A):c.2394T>C (p.Cys798=) rs35536566 0.03553
NM_007055.4(POLR3A):c.2100C>T (p.Ile700=) rs79793998 0.03469
NM_007055.4(POLR3A):c.180+20C>T rs58812772 0.02270
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_007055.4(POLR3A):c.885+19C>G rs12263414 0.01064
NM_007055.4(POLR3A):c.1566G>T (p.Leu522=) rs12255950 0.01052
NM_007055.4(POLR3A):c.3594+15G>A rs116003372 0.00728
NM_007055.4(POLR3A):c.3645C>T (p.Asp1215=) rs147591223 0.00606
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=) rs16935497 0.00487
NM_007055.4(POLR3A):c.741G>A (p.Pro247=) rs12764690 0.00484
NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=) rs116197727 0.00444
NM_007055.4(POLR3A):c.2247+8C>T rs147475356 0.00385
NM_007055.4(POLR3A):c.3660G>A (p.Lys1220=) rs141312907 0.00313
NM_007055.4(POLR3A):c.927C>T (p.Asp309=) rs41274610 0.00287
NM_007055.4(POLR3A):c.2196C>T (p.Asn732=) rs148527796 0.00249
NM_007055.4(POLR3A):c.1575T>G (p.Thr525=) rs138538977 0.00229
NM_007055.4(POLR3A):c.621G>A (p.Val207=) rs149192341 0.00223
NM_007055.4(POLR3A):c.2472C>T (p.His824=) rs139259717 0.00220
NM_007055.4(POLR3A):c.2580C>T (p.Asp860=) rs77055595 0.00210
NM_007055.4(POLR3A):c.2334C>T (p.Leu778=) rs144671070 0.00187
NM_007055.4(POLR3A):c.2604G>A (p.Thr868=) rs142834115 0.00155
NM_007055.4(POLR3A):c.1227A>G (p.Gln409=) rs144892779 0.00122
NM_007055.4(POLR3A):c.4071C>T (p.Thr1357=) rs140044475 0.00120
NM_007055.4(POLR3A):c.3901C>T (p.Leu1301=) rs116326625 0.00085
NM_007055.4(POLR3A):c.2360-15G>C rs200072629 0.00074
NM_007055.4(POLR3A):c.3036A>G (p.Glu1012=) rs192102097 0.00029
NM_007055.4(POLR3A):c.2898G>A (p.Leu966=) rs530909493 0.00018
NM_007055.4(POLR3A):c.1311A>G (p.Arg437=) rs188441842 0.00014
NM_007055.4(POLR3A):c.1771-4T>C rs569766176 0.00012
NM_007055.4(POLR3A):c.3351T>A (p.Ile1117=) rs199559258 0.00008
NM_007055.4(POLR3A):c.2031A>G (p.Ala677=) rs562035665 0.00001
NM_007055.4(POLR3A):c.45-19C>G rs548575636 0.00001
NM_007055.4(POLR3A):c.1186-10del rs767762623
NM_007055.4(POLR3A):c.1186-10dup
NM_007055.4(POLR3A):c.1289+10del rs761977772
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His) rs34588967
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) rs34588967
NM_007055.4(POLR3A):c.1771-11dup rs544204280
NM_007055.4(POLR3A):c.1771-5del rs544204280
NM_007055.4(POLR3A):c.1771-6C>A rs115020338
NM_007055.4(POLR3A):c.1771-6C>T rs115020338
NM_007055.4(POLR3A):c.1771-7C>T rs201314157

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