ClinVar Miner

Variants in gene POLR3A with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
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.1048+5G>T rs890755853 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.2119C>T (p.Gln707Ter) rs780839834 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.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) rs1564620047
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.2988+1G>A rs201733323
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) rs747683665
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183

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