ClinVar Miner

List of variants reported as likely benign for ataxia telangiectasia by Counsyl

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.8010+185_8010+186del rs984385407 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4612-32_4612-30del rs113149503 0.00031
NM_000051.4(ATM):c.3403-16_3403-15insA rs569564716 0.00016
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2919A>G (p.Leu973=) rs587779829 0.00005
NM_000051.4(ATM):c.5005+14A>T rs374337879 0.00005
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.8629T>C (p.Leu2877=) rs730881279 0.00004
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.8100A>G (p.Lys2700=) rs778601472 0.00003
NM_000051.4(ATM):c.4332G>A (p.Leu1444=) rs753570046 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=) rs370537345 0.00002
NM_000051.4(ATM):c.7515+20A>G rs80124497 0.00002
NM_000051.4(ATM):c.192A>G (p.Leu64=) rs587780616 0.00001
NM_000051.4(ATM):c.2639-7T>C rs912886321 0.00001
NM_000051.4(ATM):c.3336T>A (p.Pro1112=) rs758784434 0.00001
NM_000051.4(ATM):c.4149G>A (p.Ser1383=) rs749180334 0.00001
NM_000051.4(ATM):c.4236+8T>C rs765636697 0.00001
NM_000051.4(ATM):c.4436+10A>G rs878853509 0.00001
NM_000051.4(ATM):c.6007-10A>G rs373395916 0.00001
NM_000051.4(ATM):c.7131T>C (p.Asp2377=) rs373309822 0.00001
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2839-18dup rs730881287
NM_000051.4(ATM):c.4776+23_4776+25del rs770860526
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5178-11G>A rs200876654
NM_000051.4(ATM):c.5497-9A>G rs878853524
NM_000051.4(ATM):c.5918+16A>G rs3092911
NM_000051.4(ATM):c.7785T>C (p.Asp2595=) rs34838175
NM_000051.4(ATM):c.8987+10A>G rs1060504308

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