ClinVar Miner

List of variants in gene ATM reported as benign for immune system disorder

Included ClinVar conditions (926):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.3078-77C>T rs664677 0.65111
NM_000051.4(ATM):c.3994-193T>C rs609261 0.52017
NM_000051.4(ATM):c.2377-56A>G rs672655 0.48759
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.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000051.4(ATM):c.1899-55T>G rs4987951 0.03178
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.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.3161C>G (p.Pro1054Arg) rs1800057 0.01452
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.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.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.2922-21T>G rs149096247 0.00835
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.146C>G (p.Ser49Cys) rs1800054 0.00712
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.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
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.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.3993+5G>T rs3092842 0.00287
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.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.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.4473C>T (p.Phe1491=) rs4988008 0.00125
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.2289T>A (p.Phe763Leu) rs34231402 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.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
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.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
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.2932T>C (p.Ser978Pro) rs139552233 0.00034
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.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.3153+20T>C rs200786429 0.00012
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 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.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.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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.