ClinVar Miner

List of variants reported as benign for Ataxia-telangiectasia syndrome by Illumina Laboratory Services, Illumina

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.*3393G>T rs4585 0.53241
NM_000051.4(ATM):c.*1604C>T rs227091 0.51797
NM_000051.4(ATM):c.*548G>T rs227092 0.51711
NM_000051.4(ATM):c.-111G>A rs189037 0.48627
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000051.4(ATM):c.*3072C>T rs3092844 0.06203
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000051.4(ATM):c.*551T>C rs143531724 0.03007
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000051.4(ATM):c.*1427T>C rs3092836 0.02459
NM_000051.4(ATM):c.*2199C>G rs75959910 0.02227
NM_000051.4(ATM):c.*2220A>G rs75293772 0.02223
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000051.4(ATM):c.*371A>G rs3092835 0.01507
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000051.4(ATM):c.*3093C>T rs79807288 0.01336
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000051.4(ATM):c.*684T>G rs3092837 0.01076
NM_000051.4(ATM):c.*1799C>T rs114847811 0.00725
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000051.4(ATM):c.*2080C>T rs142456486 0.00675
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_000051.4(ATM):c.*3413T>C rs4987114 0.00100
NM_000051.4(ATM):c.*540del rs369583811
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.3403-13dup rs3218681

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