ClinVar Miner

List of variants reported as pathogenic for pulmonary fibrosis and/or bone marrow failure, telomere-related by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00006
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter) rs768188490 0.00001
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter) rs377024903 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.3766C>T (p.Gln1256Ter) rs1385101139 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_002582.4(PARN):c.382C>T (p.Arg128Ter) rs1318821563 0.00001
NM_002582.4(PARN):c.657G>A (p.Trp219Ter) rs1363931577 0.00001
NC_000016.9:g.(?_14530574)_(14724045_?)del
NC_000016.9:g.(?_14645858)_(14711527_?)del
NC_000016.9:g.(?_14645858)_(14724045_?)del
NC_000016.9:g.(?_14693741)_(14700403_?)del
NC_000016.9:g.(?_14704491)_(14704676_?)del
NC_000016.9:g.(?_14711427)_(14711527_?)del
NC_000016.9:g.(?_14711427)_(14724045_?)del
NC_000016.9:g.(?_14720953)_(14721203_?)del
NC_000020.10:g.(?_61987307)_(62329916_?)del
NC_000020.10:g.(?_62075992)_(62324656_?)del
NC_000020.10:g.(?_62290746)_(62290867_?)del
NC_000020.10:g.(?_62290746)_(62312082_?)del
NC_000020.10:g.(?_62290756)_(62324646_?)del
NC_000020.10:g.(?_62298812)_(62298916_?)del
NC_000020.10:g.(?_62298812)_(62303984_?)del
NC_000020.10:g.(?_62303889)_(62305466_?)del
NC_000020.10:g.(?_62309478)_(62324656_?)del
NC_000020.10:g.(?_62309478)_(62329916_?)del
NC_000020.10:g.(?_62309488)_(62312082_?)del
NC_000020.10:g.(?_62316856)_(62327211_?)del
NM_001283009.2(RTEL1):c.1001_1014del (p.Leu334fs) rs1601133145
NM_001283009.2(RTEL1):c.1103C>A (p.Ser368Ter)
NM_001283009.2(RTEL1):c.1111C>T (p.Gln371Ter)
NM_001283009.2(RTEL1):c.1120C>T (p.Gln374Ter)
NM_001283009.2(RTEL1):c.1194del (p.Ile398fs) rs2145411193
NM_001283009.2(RTEL1):c.1216del (p.Glu406fs) rs2145411302
NM_001283009.2(RTEL1):c.1244dup (p.Ala417fs) rs2145411399
NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter) rs2145411479
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)
NM_001283009.2(RTEL1):c.1419dup (p.Ser474fs)
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs) rs2090629495
NM_001283009.2(RTEL1):c.1603G>T (p.Glu535Ter) rs1367858373
NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter) rs2090639016
NM_001283009.2(RTEL1):c.1682_1686del (p.Pro561fs)
NM_001283009.2(RTEL1):c.1699G>T (p.Glu567Ter)
NM_001283009.2(RTEL1):c.1778_1781dup (p.Ser594fs)
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
NM_001283009.2(RTEL1):c.1890dup (p.Leu631fs) rs2145427564
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter) rs368311594
NM_001283009.2(RTEL1):c.1910del (p.Asn637fs)
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs) rs1555811742
NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter) rs2090682958
NM_001283009.2(RTEL1):c.2045G>A (p.Trp682Ter)
NM_001283009.2(RTEL1):c.2046G>A (p.Trp682Ter)
NM_001283009.2(RTEL1):c.2080del (p.Ala694fs)
NM_001283009.2(RTEL1):c.2098del (p.Arg700fs) rs2090684427
NM_001283009.2(RTEL1):c.2197_2198del (p.Arg733fs)
NM_001283009.2(RTEL1):c.2200del (p.Val734fs)
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
NM_001283009.2(RTEL1):c.2239C>T (p.Gln747Ter) rs2145430921
NM_001283009.2(RTEL1):c.2270del (p.Pro757fs) rs2145431569
NM_001283009.2(RTEL1):c.2287dup (p.Ala763fs)
NM_001283009.2(RTEL1):c.2295del (p.Ser767fs)
NM_001283009.2(RTEL1):c.2387del (p.Val796fs) rs2145432198
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)
NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter) rs2090722556
NM_001283009.2(RTEL1):c.2468del (p.Glu823fs)
NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter) rs1278121916
NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter) rs2145434954
NM_001283009.2(RTEL1):c.2575_2576del (p.Leu859fs)
NM_001283009.2(RTEL1):c.2584_2593del (p.Leu862fs) rs2145439154
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs) rs1555812480
NM_001283009.2(RTEL1):c.2653G>T (p.Glu885Ter) rs2090784564
NM_001283009.2(RTEL1):c.2671_2686del (p.Ala891fs) rs2145445706
NM_001283009.2(RTEL1):c.2713C>T (p.Gln905Ter)
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter) rs866637461
NM_001283009.2(RTEL1):c.2749C>T (p.Gln917Ter)
NM_001283009.2(RTEL1):c.2750del (p.Gln917fs)
NM_001283009.2(RTEL1):c.2783_2784del (p.Phe928fs)
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2818del (p.Ala940fs)
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter) rs906116592
NM_001283009.2(RTEL1):c.2850del (p.Gly951fs) rs2090792717
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter) rs1555813144
NM_001283009.2(RTEL1):c.2887C>T (p.Gln963Ter)
NM_001283009.2(RTEL1):c.2924del (p.Gly975fs)
NM_001283009.2(RTEL1):c.2933_2936dup (p.Pro980fs)
NM_001283009.2(RTEL1):c.2940_2956del (p.Glu981fs)
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs) rs1285014916
NM_001283009.2(RTEL1):c.2988del (p.Thr997fs)
NM_001283009.2(RTEL1):c.3043C>T (p.Gln1015Ter) rs777109448
NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter) rs771746222
NM_001283009.2(RTEL1):c.3074_3096del (p.Gly1025fs) rs2145471381
NM_001283009.2(RTEL1):c.3124C>T (p.Gln1042Ter) rs929898540
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs) rs1555814207
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) rs2090929102
NM_001283009.2(RTEL1):c.3289del (p.Ala1097fs) rs2090933372
NM_001283009.2(RTEL1):c.329_332del (p.Ile110fs) rs2146150691
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs) rs1555814334
NM_001283009.2(RTEL1):c.3389dup (p.Thr1131fs) rs2145477500
NM_001283009.2(RTEL1):c.3514G>T (p.Glu1172Ter)
NM_001283009.2(RTEL1):c.3525del (p.Lys1176fs)
NM_001283009.2(RTEL1):c.3553del (p.Arg1186fs) rs1363124795
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
NM_001283009.2(RTEL1):c.3610C>T (p.Gln1204Ter)
NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter) rs2090027846
NM_001283009.2(RTEL1):c.3672_3673del (p.Ile1225fs) rs2145480213
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs) rs1316931773
NM_001283009.2(RTEL1):c.3775_3776del (p.Ala1259fs) rs2145480909
NM_001283009.2(RTEL1):c.3776_3779del (p.Ala1259fs) rs764058481
NM_001283009.2(RTEL1):c.3787C>T (p.Gln1263Ter) rs2145480992
NM_001283009.2(RTEL1):c.440_443dup (p.Glu149fs) rs2146153920
NM_001283009.2(RTEL1):c.46C>T (p.Gln16Ter) rs2146141455
NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter) rs2090043175
NM_001283009.2(RTEL1):c.4_46dup (p.Gln16fs) rs2146141304
NM_001283009.2(RTEL1):c.535G>T (p.Glu179Ter) rs1555899932
NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.72C>G (p.Tyr24Ter)
NM_001283009.2(RTEL1):c.836_837del (p.Ile279fs) rs2146197831
NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_001283009.2(RTEL1):c.984del (p.Ile329fs) rs2146211234
NM_002582.4(PARN):c.1123C>T (p.Gln375Ter) rs1380270401
NM_002582.4(PARN):c.1124_1133del (p.Gln375fs) rs1969578006
NM_002582.4(PARN):c.122_123del (p.Ser41fs)
NM_002582.4(PARN):c.1257del (p.Phe419fs) rs942538351
NM_002582.4(PARN):c.1414C>T (p.Gln472Ter)
NM_002582.4(PARN):c.1624C>T (p.Gln542Ter) rs745696590
NM_002582.4(PARN):c.1645C>T (p.Gln549Ter)
NM_002582.4(PARN):c.177+1del
NM_002582.4(PARN):c.417_420del (p.Glu139fs) rs2151797695
NM_002582.4(PARN):c.529C>T (p.Gln177Ter) rs876661305
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_002582.4(PARN):c.709C>T (p.Arg237Ter) rs760506977
NM_002582.4(PARN):c.713dup (p.Tyr238Ter) rs1971048225
NM_002582.4(PARN):c.714del (p.Arg237_Tyr238insTer)
NM_002582.4(PARN):c.994C>T (p.Gln332Ter)

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