ClinVar Miner

List of variants in gene POLR3A reported as pathogenic for not provided

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Gene type:
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Total variants: 54
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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.1572+1G>A rs141484643 0.00003
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.2015G>A (p.Gly672Glu) rs267608670 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.3337-5T>A rs368905417 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.1011G>A (p.Trp337Ter) rs1847583387
NM_007055.4(POLR3A):c.112del (p.Ser38fs) rs2131961978
NM_007055.4(POLR3A):c.1229dup (p.Asn410fs) rs2131956457
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.1740dup (p.Val581fs) rs781745727
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.2323_2329del (p.Asn775fs) rs1847364209
NM_007055.4(POLR3A):c.2344del (p.Leu782fs)
NM_007055.4(POLR3A):c.2360_2364dup (p.Phe789fs)
NM_007055.4(POLR3A):c.2378C>G (p.Ser793Ter) rs1847352468
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) rs1564617848
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2561del (p.Gly854fs)
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.2988+1G>A rs201733323
NM_007055.4(POLR3A):c.3013del (p.Arg1005fs)
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.491-2A>G rs886041636
NM_007055.4(POLR3A):c.685C>T (p.Arg229Ter)

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