ClinVar Miner

List of variants studied for ataxia telangiectasia by Revvity Omics, Revvity

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000051.4(ATM):c.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile) rs375190373 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr) rs587782163 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter) rs747563556 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.2075G>A (p.Arg692His) rs751515818 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser) rs730881358 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln) rs587782310 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1249del (p.Thr417fs) rs786203166
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2251-2A>G rs2135405559
NM_000051.4(ATM):c.2335ATG[1] (p.Met780del) rs1555075763
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.259C>G (p.Gln87Glu)
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.3277A>G (p.Ile1093Val) rs876659667
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter) rs587781911
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.365A>G (p.Asn122Ser) rs1060501596
NM_000051.4(ATM):c.3746+1G>A rs2082309297
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.4062del (p.Ala1355fs) rs2135736779
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter) rs766438805
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4844del (p.Lys1615fs) rs1555101791
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5172dup (p.Asp1725fs) rs2135893222
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.6560delinsGG (p.Glu2187fs)
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr) rs1060501641
NM_000051.4(ATM):c.6680G>A (p.Arg2227His) rs879254132
NM_000051.4(ATM):c.6751del (p.Leu2251fs)
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.737A>G (p.Asn246Ser) rs781023264
NM_000051.4(ATM):c.7515+1G>T rs1591161831
NM_000051.4(ATM):c.7542T>G (p.Tyr2514Ter) rs777925486
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.808A>G (p.Arg270Gly) rs2135241589
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8732C>A (p.Thr2911Asn)
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8988-2A>G rs786202087
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.4(ATM):c.927A>T (p.Arg309Ser) rs935834518

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