ClinVar Miner

List of variants in gene POLR1A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro) rs146078741 0.00557
NM_015425.6(POLR1A):c.537A>C (p.Ala179=) rs114299317 0.00295
NM_015425.6(POLR1A):c.2040G>A (p.Pro680=) rs112708556 0.00281
NM_015425.6(POLR1A):c.1511G>A (p.Arg504His) rs142266408 0.00229
NM_015425.6(POLR1A):c.450C>T (p.Pro150=) rs187487275 0.00116
NM_015425.6(POLR1A):c.4273-5G>A rs370722814 0.00092
NM_015425.6(POLR1A):c.1580C>T (p.Thr527Met) rs373804876 0.00064
NM_015425.6(POLR1A):c.4832C>T (p.Thr1611Met) rs778229105 0.00002
NM_015425.6(POLR1A):c.2565G>C (p.Gln855His)
NM_015425.6(POLR1A):c.4413G>A (p.Glu1471=)
NM_015425.6(POLR1A):c.4963A>G (p.Lys1655Glu) rs1672302572

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