ClinVar Miner

List of variants reported as benign for Ataxia-telangiectasia syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 241
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.3078-77C>T rs664677 0.65111
NM_000051.4(ATM):c.8671+104T>C rs227075 0.62224
NM_000051.4(ATM):c.8850+60A>G rs664143 0.61921
NM_000051.4(ATM):c.*3393G>T rs4585 0.53241
NM_000051.4(ATM):c.3994-193T>C rs609261 0.52017
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.2377-56A>G rs672655 0.48759
NM_000051.4(ATM):c.-111G>A rs189037 0.48627
NM_000051.4(ATM):c.8851-973A>C rs170548 0.27178
NM_000051.4(ATM):c.8010+186C>T rs227060 0.26885
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.4777-20A>G rs3218678 0.06221
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.1899-55T>G rs4987951 0.03178
NM_000051.4(ATM):c.*551T>C rs143531724 0.03007
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
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.6573-36C>T rs759869598 0.02433
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.2639-17G>T rs2234994 0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_000051.4(ATM):c.*371A>G rs3092835 0.01507
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
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.3403-34T>A rs148368017 0.01280
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000051.4(ATM):c.3402+70A>G rs3218671 0.01120
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.*684T>G rs3092837 0.01076
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000051.4(ATM):c.4776+41C>T rs114726455 0.00726
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.3994-121del rs56013141 0.00643
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
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.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000051.4(ATM):c.2250+22A>C rs3218692 0.00419
NM_000051.4(ATM):c.2250+34A>C rs3218705 0.00419
NM_000051.4(ATM):c.5005+18G>A rs76290788 0.00414
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000051.4(ATM):c.6573-30C>T rs775413448 0.00345
NM_000051.4(ATM):c.5918+72A>G rs3218694 0.00314
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
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.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000051.4(ATM):c.*3413T>C rs4987114 0.00100
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000051.4(ATM):c.3403-14A>T rs941737393 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000051.4(ATM):c.3402+17T>C rs3092825 0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=) rs3092826 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000051.4(ATM):c.3153+20T>C rs200786429 0.00012
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00008
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2376+20G>C rs140364468 0.00005
NM_000051.4(ATM):c.3403-14_3403-13del rs1565441205 0.00005
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.9006C>T (p.Phe3002=) rs540172506 0.00003
NM_000051.4(ATM):c.2262A>G (p.Gln754=) rs778320952 0.00002
NM_000051.4(ATM):c.1898+3A>G rs200169643 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln) rs370680798 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.8532T>C (p.Ile2844=) rs730881278 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000051.4(ATM):c.*540del rs369583811
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1236-10_1236-3dup rs34325032
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1608-8del rs1064794419
NM_000051.4(ATM):c.1746C>G (p.Phe582Leu) rs145629926
NM_000051.4(ATM):c.1803-15del rs1420491228
NM_000051.4(ATM):c.2124+12del rs769051992
NM_000051.4(ATM):c.2124+12dup rs769051992
NM_000051.4(ATM):c.2124+19del rs35211268
NM_000051.4(ATM):c.2124+19dup rs35211268
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2574T>G (p.Phe858Leu) rs2081309060
NM_000051.4(ATM):c.2639-27_2639-22del rs4987971
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.3153+10dup rs1565428079
NM_000051.4(ATM):c.3153+20del rs760492979
NM_000051.4(ATM):c.3153+20dup rs760492979
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3402+32_3402+34del rs545376366
NM_000051.4(ATM):c.3403-13A>T rs1591636037
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.3403-15dup rs1555091083
NM_000051.4(ATM):c.3403-9C>T rs375483605
NM_000051.4(ATM):c.3577-12del rs730881288
NM_000051.4(ATM):c.3577-30C>T rs751436997
NM_000051.4(ATM):c.3747-11del
NM_000051.4(ATM):c.3747-3dup rs2135703985
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.4(ATM):c.3963G>T (p.Met1321Ile) rs35184530
NM_000051.4(ATM):c.4363A>C (p.Ser1455Arg) rs2135763861
NM_000051.4(ATM):c.4611+8del
NM_000051.4(ATM):c.4612-11A>T rs1217349031
NM_000051.4(ATM):c.4612-12A>T rs1326401118
NM_000051.4(ATM):c.4612-13A>T rs1267116629
NM_000051.4(ATM):c.4612-19C>T rs1336477936
NM_000051.4(ATM):c.4753A>G (p.Arg1585Gly) rs781275128
NM_000051.4(ATM):c.4777-10del rs1398289633
NM_000051.4(ATM):c.4777-3dup rs2083032760
NM_000051.4(ATM):c.4910-11dup rs2135860579
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.5178-4del rs747750958
NM_000051.4(ATM):c.5178-4dup rs747750958
NM_000051.4(ATM):c.566G>A (p.Arg189Lys) rs79075295
NM_000051.4(ATM):c.5674+18del
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.5918+21del rs1350577892
NM_000051.4(ATM):c.5948= (p.Ser1983=) rs659243
NM_000051.4(ATM):c.5948G>A (p.Ser1983Asn) rs659243
NM_000051.4(ATM):c.6007-27C>T rs1164649351
NM_000051.4(ATM):c.6007-30C>T rs1425802573
NM_000051.4(ATM):c.6007-33C>T rs1191788183
NM_000051.4(ATM):c.6007-34C>T rs1591775892
NM_000051.4(ATM):c.6067G>C (p.Gly2023Arg)
NM_000051.4(ATM):c.6198+11del
NM_000051.4(ATM):c.6198+11dup rs2136133315
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6347+31dup rs58978479
NM_000051.4(ATM):c.6453-9del
NM_000051.4(ATM):c.6453-9dup
NM_000051.4(ATM):c.6573-23G>T rs1591127987
NM_000051.4(ATM):c.6573-26C>A rs1591127920
NM_000051.4(ATM):c.6573-31G>T rs1274213878
NM_000051.4(ATM):c.6573-31_6573-30del rs1216821271
NM_000051.4(ATM):c.6573-34C>T rs767824695
NM_000051.4(ATM):c.6573-37_6573-36insTTTTTT rs1591127671
NM_000051.4(ATM):c.6573-41_6573-40del rs758339884
NM_000051.4(ATM):c.6573-41del rs1271045298
NM_000051.4(ATM):c.6573-42_6573-41del rs1347499229
NM_000051.4(ATM):c.6808-72ATT[4] rs3212322
NM_000051.4(ATM):c.6975+13del rs763287238
NM_000051.4(ATM):c.6975+13dup rs763287238
NM_000051.4(ATM):c.6976-16dup
NM_000051.4(ATM):c.7090-8del rs2136409048
NM_000051.4(ATM):c.7516-9del rs573494809
NM_000051.4(ATM):c.7516-9dup rs573494809
NM_000051.4(ATM):c.7630-29G>T rs1591170490
NM_000051.4(ATM):c.7630-37G>T rs1591170392
NM_000051.4(ATM):c.7789-15G>T rs781449587
NM_000051.4(ATM):c.7927+13del rs587781324
NM_000051.4(ATM):c.7927+13dup rs587781324
NM_000051.4(ATM):c.8010+30dup rs3218702
NM_000051.4(ATM):c.8786+90G>A rs179108
NM_000051.4(ATM):c.8787-55C>T rs664982
NM_000051.4(ATM):c.8850+12dup rs1555143639

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