ClinVar Miner

List of variants reported as benign for pulmonary fibrosis and/or bone marrow failure, telomere-related

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.538+160A>T rs6010998 0.81932
NM_001283009.2(RTEL1):c.395+164T>C rs2297433 0.81920
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_001283009.2(RTEL1):c.1349-135G>C rs6062490 0.81468
NM_001283009.2(RTEL1):c.1596-28T>C rs2738785 0.81463
NM_001283009.2(RTEL1):c.1038-104G>A rs2297438 0.80871
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_017612.5(ZCCHC8):c.1140+29A>G rs10846978 0.76348
NM_001283009.2(RTEL1):c.958+18C>T rs41309367 0.68710
NM_001283009.2(RTEL1):c.477+35C>T rs2297434 0.45720
NM_001283009.2(RTEL1):c.700-115G>A rs6062300 0.44984
NM_001283009.2(RTEL1):c.766-19G>A rs2297437 0.25212
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_198253.3(TERT):c.*99C>T rs2853690 0.20149
NM_001283009.2(RTEL1):c.1636+29C>G rs2777940 0.14402
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_001283009.2(RTEL1):c.582T>C (p.Ile194=) rs73920935 0.08708
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_001283009.2(RTEL1):c.3891A>G (p.Pro1297=) rs1056990 0.06020
NM_001283009.2(RTEL1):c.879T>C (p.Gly293=) rs6010616 0.05825
NM_001283009.2(RTEL1):c.371A>G (p.Asn124Ser) rs3848668 0.05764
NM_001283009.2(RTEL1):c.786G>A (p.Ser262=) rs6011020 0.05175
NM_001283009.2(RTEL1):c.1482-6G>A rs76364377 0.04646
NM_002582.4(PARN):c.918+14T>C rs75783314 0.04521
NM_001283009.2(RTEL1):c.2823G>C (p.Glu941Asp) rs61736614 0.03406
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02889
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02652
NM_198253.3(TERT):c.1573+39G>C rs79662648 0.02633
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_198253.3(TERT):c.3324G>A (p.Pro1108=) rs35033501 0.01868
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01644
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_001283009.2(RTEL1):c.1192-9del rs200008996 0.01145
NM_198253.3(TERT):c.*63C>T rs5031049 0.01135
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=) rs41302954 0.00947
NM_002582.4(PARN):c.1383T>C (p.Leu461=) rs143472178 0.00920
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_001283009.2(RTEL1):c.103-6G>A rs57695352 0.00707
NM_001283009.2(RTEL1):c.2852-16G>A rs143229960 0.00649
NM_002582.4(PARN):c.1690G>A (p.Val564Ile) rs35722504 0.00623
NM_001283009.2(RTEL1):c.3692C>T (p.Thr1231Met) rs144477693 0.00581
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp) rs115464632 0.00579
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His) rs115423936 0.00567
NM_198253.3(TERT):c.*153C>T rs114012142 0.00547
NM_001283009.2(RTEL1):c.1800+14C>T rs150377952 0.00456
NM_002582.4(PARN):c.840+6del rs531994703 0.00452
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=) rs116057134 0.00441
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=) rs12480346 0.00414
NM_001283009.2(RTEL1):c.1953C>T (p.Arg651=) rs79210260 0.00411
NM_001283009.2(RTEL1):c.3110-17T>C rs192060579 0.00373
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=) rs35877957 0.00353
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_001283009.2(RTEL1):c.1349-17C>T rs58559263 0.00324
NM_001283009.2(RTEL1):c.3056A>G (p.Gln1019Arg) rs116053476 0.00305
NM_001283009.2(RTEL1):c.301+7C>T rs200648296 0.00276
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001283009.2(RTEL1):c.2653-18C>T rs185974219 0.00217
NM_001283009.2(RTEL1):c.2414-6C>T rs376868750 0.00214
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_002582.4(PARN):c.840+6T>C rs59687658 0.00184
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073 0.00146
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=) rs114292675 0.00144
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=) rs3848671 0.00128
NM_001283009.2(RTEL1):c.3561G>A (p.Gln1187=) rs138074015 0.00128
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr) rs115303435 0.00112
NM_002582.4(PARN):c.1761C>T (p.Ser587=) rs148052946 0.00110
NM_001283009.2(RTEL1):c.395+12G>A rs201572070 0.00106
NM_002582.4(PARN):c.1263-8T>G rs182460499 0.00097
NM_001283009.2(RTEL1):c.1481+18C>T rs144022543 0.00096
NM_001283009.2(RTEL1):c.762C>T (p.Asn254=) rs150877719 0.00090
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=) rs12625047 0.00086
NM_001283009.2(RTEL1):c.3702G>A (p.Pro1234=) rs368176460 0.00086
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=) rs115030322 0.00081
NM_002582.4(PARN):c.825C>T (p.His275=) rs374114285 0.00073
NM_001283009.2(RTEL1):c.1349-14C>T rs373301404 0.00068
NM_001283009.2(RTEL1):c.1595+19G>A rs202032186 0.00067
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00055
NM_002582.4(PARN):c.1102A>T (p.Ser368Cys) rs138984302 0.00050
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_001283009.2(RTEL1):c.2349C>T (p.Phe783=) rs200068703 0.00049
NM_198253.3(TERT):c.2130+10G>A rs373879259 0.00048
NM_002582.4(PARN):c.1843A>G (p.Lys615Glu) rs368440052 0.00046
NM_001283009.2(RTEL1):c.959-10C>T rs202035834 0.00044
NM_001283009.2(RTEL1):c.2852-17C>T rs200335181 0.00039
NM_198253.3(TERT):c.2582+11C>T rs180675821 0.00036
NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=) rs188479221 0.00032
NM_001283009.2(RTEL1):c.2146G>A (p.Ala716Thr) rs200003693 0.00032
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=) rs61736622 0.00032
NM_001283009.2(RTEL1):c.1267-17G>A rs558289937 0.00031
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_002582.4(PARN):c.1006-5T>C rs377692519 0.00026
NM_001283009.2(RTEL1):c.3090G>A (p.Ser1030=) rs187238540 0.00024
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_002582.4(PARN):c.1192+4C>T rs185546844 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_002582.4(PARN):c.978A>G (p.Lys326=) rs200678657 0.00017
NM_001283009.2(RTEL1):c.1830C>T (p.Ala610=) rs140738232 0.00016
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969 0.00016
NM_001283009.2(RTEL1):c.1596-9C>T rs200803729 0.00014
NM_198253.3(TERT):c.645C>T (p.Gly215=) rs768426236 0.00014
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_001283009.2(RTEL1):c.1348+20C>T rs375760002 0.00011
NM_001283009.2(RTEL1):c.2721G>A (p.Leu907=) rs763364387 0.00010
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_002582.4(PARN):c.1082-13T>A rs188469919 0.00006
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_002582.4(PARN):c.1006-12C>T rs767292858 0.00002
NM_198253.3(TERT):c.2886C>T (p.Arg962=) rs542440625 0.00002
NM_001283009.2(RTEL1):c.1482-10C>G rs754623770 0.00001
NM_001283009.2(RTEL1):c.301+15C>T rs532341610 0.00001
NM_001283009.2(RTEL1):c.3038C>T (p.Ala1013Val) rs569586118 0.00001
NM_001283009.2(RTEL1):c.3499+15T>C rs546556686 0.00001
NM_198253.3(TERT):c.2781A>G (p.Leu927=) rs370292237 0.00001
NM_001283009.2(RTEL1):c.1349-10dup
NM_001283009.2(RTEL1):c.1637-50A>C rs2777941
NM_001283009.2(RTEL1):c.1879-4del
NM_001283009.2(RTEL1):c.2142-3del rs755965232
NM_001283009.2(RTEL1):c.2266-13dup rs546123796
NM_001283009.2(RTEL1):c.2310AGA[1] (p.Glu771del) rs558133631
NM_001283009.2(RTEL1):c.2557-89G>C rs2236507
NM_001283009.2(RTEL1):c.2670T>G (p.Gly890=)
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=) rs3848672
NM_001283009.2(RTEL1):c.2784_2785delinsTA (p.Ala929Thr) rs1601182623
NM_001283009.2(RTEL1):c.2852-12del
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_001283009.2(RTEL1):c.2993-8_2993-6del rs761735369
NM_001283009.2(RTEL1):c.3344-5del rs2145477238
NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=) rs6062495
NM_001283009.2(RTEL1):c.477+19G>A rs6010997
NM_001283009.2(RTEL1):c.615-149C>G rs7261546
NM_002582.4(PARN):c.1082-6dup rs763461320
NM_002582.4(PARN):c.1192+5G>A
NM_002582.4(PARN):c.1193-10del
NM_002582.4(PARN):c.1481-14del rs748039977
NM_002582.4(PARN):c.1670+17G>T rs116427010
NM_002582.4(PARN):c.245+20G>A rs377105548
NM_002582.4(PARN):c.703-3dup
NM_002582.4(PARN):c.919-3T>C rs2151757180
NM_002582.4(PARN):c.963-11del rs756034248
NM_017612.5(ZCCHC8):c.200-44T>C rs7314638
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567

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