ClinVar Miner

List of variants reported as uncertain significance for Aplastic anemia

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ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_000619.3(IFNG):c.183+15C>G rs199708992 0.00081
NM_001083116.3(PRF1):c.1229G>A (p.Arg410Gln) rs150558419 0.00077
NM_000619.3(IFNG):c.114+11C>T rs200610212 0.00070
NM_000619.3(IFNG):c.-5A>G rs181407537 0.00066
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_198253.3(TERT):c.2130+10G>A rs373879259 0.00048
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_198253.3(TERT):c.3333G>A (p.Thr1111=) rs200102606 0.00030
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_198253.3(TERT):c.*237C>T rs567092780 0.00024
NM_198253.3(TERT):c.*83G>A rs533940688 0.00022
NM_002485.5(NBN):c.786C>A (p.Phe262Leu) rs372159380 0.00021
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_198253.3(TERT):c.645C>T (p.Gly215=) rs768426236 0.00014
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_000619.3(IFNG):c.285C>T (p.Thr95=) rs142375196 0.00009
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_198253.3(TERT):c.2127C>G (p.Val709=) rs765264494 0.00008
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) rs367760321 0.00007
NM_002485.5(NBN):c.227C>A (p.Thr76Asn) rs587781412 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_001083116.3(PRF1):c.1636C>G (p.Pro546Ala) rs550799905 0.00006
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) rs587781881 0.00006
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_001083116.3(PRF1):c.796A>G (p.Ile266Val) rs200824018 0.00005
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe) rs572568222 0.00005
NM_002485.5(NBN):c.52C>A (p.Leu18Ile) rs587781939 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_001083116.3(PRF1):c.97C>T (p.Arg33Cys) rs777782785 0.00004
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_002485.5(NBN):c.506G>A (p.Arg169His) rs776134250 0.00004
NM_002485.5(NBN):c.633T>A (p.Asp211Glu) rs377700348 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_198253.3(TERT):c.*230T>C rs751808151 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.2580C>T (p.Asp860=) rs751752830 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) rs376255453 0.00004
NM_002485.5(NBN):c.284A>G (p.Asp95Gly) rs545276922 0.00003
NM_002485.5(NBN):c.302T>C (p.Val101Ala) rs185493105 0.00003
NM_002485.5(NBN):c.509C>T (p.Pro170Leu) rs587782411 0.00003
NM_002485.5(NBN):c.613A>G (p.Ile205Val) rs730881845 0.00003
NM_002485.5(NBN):c.935T>C (p.Leu312Ser) rs371480039 0.00003
NM_198253.3(TERT):c.*104C>T rs886059830 0.00003
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_198253.3(TERT):c.968C>G (p.Pro323Arg) rs139342764 0.00003
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu) rs863224714 0.00002
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys) rs766602873 0.00002
NM_002485.5(NBN):c.1871G>A (p.Arg624His) rs587782297 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln) rs753270166 0.00002
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) rs201559159 0.00002
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) rs753812768 0.00002
NM_002485.5(NBN):c.940G>A (p.Val314Met) rs529845940 0.00002
NM_016222.4(DDX41):c.253G>T (p.Val85Phe) rs773991873 0.00002
NM_198253.3(TERT):c.*64G>A rs1327773385 0.00002
NM_198253.3(TERT):c.2886C>T (p.Arg962=) rs542440625 0.00002
NM_000619.3(IFNG):c.*231T>C rs1413472447 0.00001
NM_000619.3(IFNG):c.-34T>G rs752463155 0.00001
NM_000619.3(IFNG):c.431C>T (p.Ser144Leu) rs753611452 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.1248G>T (p.Met416Ile) rs756572268 0.00001
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr) rs587780774 0.00001
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser) rs730881851 0.00001
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly) rs878854505 0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) rs143948240 0.00001
NM_002485.5(NBN):c.1580A>T (p.Asp527Val) rs1554558407 0.00001
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys) rs1586053587 0.00001
NM_002485.5(NBN):c.171+3A>G rs1487002693 0.00001
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser) rs876658681 0.00001
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro) rs746632073 0.00001
NM_002485.5(NBN):c.2099C>G (p.Pro700Arg) rs1367898317 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.321-3C>T rs751356470 0.00001
NM_002485.5(NBN):c.350C>T (p.Ser117Phe) rs1060503468 0.00001
NM_002485.5(NBN):c.490G>T (p.Ala164Ser) rs786201252 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 0.00001
NM_002485.5(NBN):c.703C>T (p.His235Tyr) rs1554564044 0.00001
NM_002485.5(NBN):c.772G>C (p.Glu258Gln) rs922057169 0.00001
NM_002485.5(NBN):c.826A>T (p.Thr276Ser) rs1554563895 0.00001
NM_002485.5(NBN):c.938C>T (p.Ala313Val) rs730881862 0.00001
NM_198253.3(TERT):c.*339T>C rs920370048 0.00001
NM_198253.3(TERT):c.189G>A (p.Arg63=) rs1554043134 0.00001
NM_198253.3(TERT):c.1939A>C (p.Arg647=) rs144821759 0.00001
NM_198253.3(TERT):c.2781A>G (p.Leu927=) rs370292237 0.00001
NM_198253.3(TERT):c.3101G>A (p.Arg1034His) rs62331332 0.00001
NM_198253.3(TERT):c.880C>T (p.His294Tyr) rs886059906 0.00001
NM_000619.3(IFNG):c.*107A>G rs886049800
NM_000619.3(IFNG):c.*187T>G rs1213374453
NM_000619.3(IFNG):c.*22T>A rs1882583669
NM_000619.3(IFNG):c.*93TCAA[1] rs137854903
NM_000619.3(IFNG):c.*9C>T rs886049801
NM_000619.3(IFNG):c.-2C>A rs886049802
NM_000619.3(IFNG):c.-9T>C rs886049803
NM_000619.3(IFNG):c.431C>A (p.Ser144Ter) rs753611452
NM_001083116.3(PRF1):c.442G>A (p.Ala148Thr) rs1208723557
NM_001083116.3(PRF1):c.568C>T (p.His190Tyr)
NM_002485.5(NBN):c.105T>G (p.Ile35Met) rs78870221
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu) rs1354459986
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile) rs1174990974
NM_002485.5(NBN):c.115C>A (p.Gln39Lys) rs377730553
NM_002485.5(NBN):c.1194A>C (p.Gln398His) rs200046373
NM_002485.5(NBN):c.11T>C (p.Leu4Pro) rs748090667
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.5(NBN):c.1373A>T (p.Tyr458Phe)
NM_002485.5(NBN):c.1408G>A (p.Glu470Lys)
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys) rs755805461
NM_002485.5(NBN):c.1442C>T (p.Ala481Val)
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro) rs587781380
NM_002485.5(NBN):c.1481A>T (p.Gln494Leu)
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro) rs1554558483
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser) rs1563526901
NM_002485.5(NBN):c.1534G>A (p.Glu512Lys) rs1554558445
NM_002485.5(NBN):c.1594G>T (p.Val532Leu) rs545435120
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly) rs876658501
NM_002485.5(NBN):c.1622C>T (p.Ala541Val) rs876658501
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln) rs1064793213
NM_002485.5(NBN):c.1666G>A (p.Val556Met) rs771567358
NM_002485.5(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.5(NBN):c.1706A>G (p.Asp569Gly)
NM_002485.5(NBN):c.1845+5_1845+8del rs1563524615
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys) rs962092255
NM_002485.5(NBN):c.188T>A (p.Ile63Asn) rs961554359
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg) rs1586043635
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr) rs756036331
NM_002485.5(NBN):c.1915-5T>G rs1554556608
NM_002485.5(NBN):c.1940G>A (p.Ser647Asn)
NM_002485.5(NBN):c.194T>A (p.Val65Glu) rs1563581457
NM_002485.5(NBN):c.1984C>A (p.Leu662Met)
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys) rs1554556522
NM_002485.5(NBN):c.202T>G (p.Leu68Val) rs1200599843
NM_002485.5(NBN):c.2039G>A (p.Gly680Asp)
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser) rs1181142133
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln) rs587780092
NM_002485.5(NBN):c.2070+5G>A rs1323512485
NM_002485.5(NBN):c.2101C>T (p.His701Tyr) rs587781567
NM_002485.5(NBN):c.2185-3C>T rs1809726732
NM_002485.5(NBN):c.2198A>G (p.His733Arg) rs998714046
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.2210A>T (p.Glu737Val) rs1554554247
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu) rs767523514
NM_002485.5(NBN):c.247A>G (p.Met83Val) rs955258267
NM_002485.5(NBN):c.247A>T (p.Met83Leu) rs955258267
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.5(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) rs730881841
NM_002485.5(NBN):c.38-3C>G rs876661099
NM_002485.5(NBN):c.388C>G (p.Gln130Glu) rs1586107038
NM_002485.5(NBN):c.392C>G (p.Ala131Gly) rs1469136096
NM_002485.5(NBN):c.480+3A>G rs756817252
NM_002485.5(NBN):c.523G>C (p.Glu175Gln) rs730881861
NM_002485.5(NBN):c.536A>T (p.Glu179Val) rs864622578
NM_002485.5(NBN):c.572C>T (p.Pro191Leu) rs876661071
NM_002485.5(NBN):c.593C>T (p.Pro198Leu) rs951997505
NM_002485.5(NBN):c.602A>G (p.Asp201Gly) rs587780098
NM_002485.5(NBN):c.655A>C (p.Lys219Gln) rs730881846
NM_002485.5(NBN):c.704A>C (p.His235Pro)
NM_002485.5(NBN):c.882G>C (p.Met294Ile) rs1811450172
NM_002485.5(NBN):c.896G>A (p.Arg299Lys)
NM_002485.5(NBN):c.897G>T (p.Arg299Ser) rs779798363
NM_002485.5(NBN):c.913A>G (p.Ile305Val)
NM_002485.5(NBN):c.925G>A (p.Glu309Lys) rs587780101
NM_002485.5(NBN):c.99T>G (p.Ile33Met) rs1172365532
NM_198253.3(TERT):c.*308A>G rs1747469600
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.1401C>T (p.Ala467=) rs1751126189
NM_198253.3(TERT):c.2003A>C (p.Glu668Ala) rs1749859084
NM_198253.3(TERT):c.2523C>G (p.Leu841=) rs1554039733
NM_198253.3(TERT):c.2626C>A (p.His876Asn) rs1483412488
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.3(TERT):c.483G>C (p.Leu161=) rs755155708
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.3(TERT):c.696G>T (p.Leu232=) rs1033402019
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.875C>G (p.Thr292Arg) rs1751193051
NM_198253.3(TERT):c.908A>T (p.His303Leu) rs1751187792

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