ClinVar Miner

List of variants in gene PARN reported as likely benign for Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 320
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HGVS dbSNP gnomAD frequency
NM_002582.4(PARN):c.1782C>T (p.Thr594=) rs187555579 0.00107
NM_002582.4(PARN):c.1874C>T (p.Ser625Leu) rs201963032 0.00048
NM_002582.4(PARN):c.1464C>T (p.Pro488=) rs61748886 0.00046
NM_002582.4(PARN):c.1405+11A>C rs185306324 0.00030
NM_002582.4(PARN):c.1434C>T (p.Asp478=) rs368012289 0.00023
NM_002582.4(PARN):c.1413T>C (p.Ile471=) rs371869778 0.00021
NM_002582.4(PARN):c.1635C>G (p.Pro545=) rs372937126 0.00021
NM_002582.4(PARN):c.389-8G>A rs200322751 0.00020
NM_002582.4(PARN):c.1406-9C>T rs530099133 0.00019
NM_002582.4(PARN):c.1193-8T>G rs372257813 0.00013
NM_002582.4(PARN):c.1875G>A (p.Ser625=) rs370090572 0.00011
NM_002582.4(PARN):c.1131C>T (p.His377=) rs200644588 0.00010
NM_002582.4(PARN):c.1405+7C>T rs529494184 0.00010
NM_002582.4(PARN):c.1572A>G (p.Arg524=) rs370717086 0.00010
NM_002582.4(PARN):c.1476G>A (p.Lys492=) rs1401747770 0.00009
NM_002582.4(PARN):c.703-6T>C rs370304152 0.00009
NM_002582.4(PARN):c.1320G>A (p.Leu440=) rs376352894 0.00008
NM_002582.4(PARN):c.198A>C (p.Leu66=) rs562694645 0.00008
NM_002582.4(PARN):c.639T>C (p.Ile213=) rs377042458 0.00008
NM_002582.4(PARN):c.666G>A (p.Pro222=) rs186335640 0.00007
NM_002582.4(PARN):c.1081+16C>T rs552550807 0.00006
NM_002582.4(PARN):c.1405+8G>A rs373527624 0.00006
NM_002582.4(PARN):c.15G>A (p.Arg5=) rs559617389 0.00006
NM_002582.4(PARN):c.328-16G>A rs372305239 0.00006
NM_002582.4(PARN):c.1101A>G (p.Pro367=) rs199737339 0.00004
NM_002582.4(PARN):c.1192+10A>G rs1431920646 0.00004
NM_002582.4(PARN):c.245+15C>T rs372872068 0.00004
NM_002582.4(PARN):c.327+7A>C rs1376159353 0.00004
NM_002582.4(PARN):c.554+16A>G rs757429918 0.00004
NM_002582.4(PARN):c.659+19T>C rs989916354 0.00004
NM_002582.4(PARN):c.877G>A (p.Val293Ile) rs758441481 0.00004
NM_002582.4(PARN):c.1081+17G>A rs772169396 0.00003
NM_002582.4(PARN):c.1082-9T>C rs750247475 0.00003
NM_002582.4(PARN):c.1193-4T>C rs913658784 0.00003
NM_002582.4(PARN):c.1347T>C (p.His449=) rs772723061 0.00003
NM_002582.4(PARN):c.1773T>G (p.Leu591=) rs528847015 0.00003
NM_002582.4(PARN):c.178-9C>A rs779459015 0.00003
NM_002582.4(PARN):c.1791T>C (p.Cys597=) rs751632900 0.00003
NM_002582.4(PARN):c.1800C>G (p.Pro600=) rs766731547 0.00003
NM_002582.4(PARN):c.245+19C>T rs762440317 0.00003
NM_002582.4(PARN):c.27G>A (p.Lys9=) rs746897251 0.00003
NM_002582.4(PARN):c.328-8dup rs778705967 0.00003
NM_002582.4(PARN):c.411A>G (p.Glu137=) rs368804005 0.00003
NM_002582.4(PARN):c.459G>A (p.Ala153=) rs960463679 0.00003
NM_002582.4(PARN):c.540T>C (p.Phe180=) rs375818973 0.00003
NM_002582.4(PARN):c.723C>T (p.Ile241=) rs759287643 0.00003
NM_002582.4(PARN):c.918+18C>T rs751944132 0.00003
NM_002582.4(PARN):c.1192+7A>G rs766337795 0.00002
NM_002582.4(PARN):c.1377C>T (p.Ser459=) rs530411927 0.00002
NM_002582.4(PARN):c.1406-8G>A rs529177861 0.00002
NM_002582.4(PARN):c.1887T>C (p.Pro629=) rs755932317 0.00002
NM_002582.4(PARN):c.327+15T>C rs780508767 0.00002
NM_002582.4(PARN):c.345T>C (p.Phe115=) rs201678082 0.00002
NM_002582.4(PARN):c.453A>T (p.Ser151=) rs911902351 0.00002
NM_002582.4(PARN):c.703-15C>T rs1026718450 0.00002
NM_002582.4(PARN):c.783+9G>T rs2508224219 0.00002
NM_002582.4(PARN):c.840+16T>C rs754710092 0.00002
NM_002582.4(PARN):c.876C>T (p.Asp292=) rs759199788 0.00002
NM_002582.4(PARN):c.1005+10A>G rs1007818879 0.00001
NM_002582.4(PARN):c.1005+11T>C rs1043027700 0.00001
NM_002582.4(PARN):c.1005+12T>C rs370455325 0.00001
NM_002582.4(PARN):c.1005+17A>G rs953216938 0.00001
NM_002582.4(PARN):c.1044G>A (p.Lys348=) rs550419061 0.00001
NM_002582.4(PARN):c.1081+14A>G rs754175748 0.00001
NM_002582.4(PARN):c.1086T>C (p.Ser362=) rs373433515 0.00001
NM_002582.4(PARN):c.1089C>G (p.Ala363=) rs776536066 0.00001
NM_002582.4(PARN):c.1152C>T (p.Tyr384=) rs781722636 0.00001
NM_002582.4(PARN):c.1161G>A (p.Gly387=) rs1481131348 0.00001
NM_002582.4(PARN):c.1182C>G (p.Ala394=) rs753507535 0.00001
NM_002582.4(PARN):c.1192+14G>A rs748531016 0.00001
NM_002582.4(PARN):c.1192+9T>C rs763317302 0.00001
NM_002582.4(PARN):c.1242C>T (p.Leu414=) rs773361276 0.00001
NM_002582.4(PARN):c.1263-9T>G rs1967642171 0.00001
NM_002582.4(PARN):c.1318+10T>A rs775772184 0.00001
NM_002582.4(PARN):c.135T>C (p.Asn45=) rs181642805 0.00001
NM_002582.4(PARN):c.1392T>C (p.Leu464=) rs550989940 0.00001
NM_002582.4(PARN):c.1405+17G>C rs751856385 0.00001
NM_002582.4(PARN):c.1481-6T>G rs746767566 0.00001
NM_002582.4(PARN):c.1481-8C>T rs1365036366 0.00001
NM_002582.4(PARN):c.1500T>C (p.Tyr500=) rs1596486011 0.00001
NM_002582.4(PARN):c.1527T>C (p.Tyr509=) rs752381488 0.00001
NM_002582.4(PARN):c.1530T>G (p.Ala510=) rs767283396 0.00001
NM_002582.4(PARN):c.1620C>T (p.Asn540=) rs550755432 0.00001
NM_002582.4(PARN):c.1671-18C>T rs1053197115 0.00001
NM_002582.4(PARN):c.1740C>T (p.Asp580=) rs754436480 0.00001
NM_002582.4(PARN):c.177+16A>G rs756765052 0.00001
NM_002582.4(PARN):c.177+20A>G rs1477667575 0.00001
NM_002582.4(PARN):c.177+9A>G rs1644295998 0.00001
NM_002582.4(PARN):c.178-10C>T rs1328915368 0.00001
NM_002582.4(PARN):c.1824C>A (p.Ala608=) rs372735495 0.00001
NM_002582.4(PARN):c.1864+19C>T rs771533054 0.00001
NM_002582.4(PARN):c.1864+20G>A rs745406192 0.00001
NM_002582.4(PARN):c.1865-16T>C rs777247651 0.00001
NM_002582.4(PARN):c.1865-9T>C rs768874362 0.00001
NM_002582.4(PARN):c.19+17C>T rs943003147 0.00001
NM_002582.4(PARN):c.1914A>G (p.Thr638=) rs765213830 0.00001
NM_002582.4(PARN):c.20-16T>G rs1333926333 0.00001
NM_002582.4(PARN):c.20-19C>T rs1214041682 0.00001
NM_002582.4(PARN):c.20-5C>T rs768591192 0.00001
NM_002582.4(PARN):c.20-8C>A rs747888634 0.00001
NM_002582.4(PARN):c.255G>A (p.Thr85=) rs1349142176 0.00001
NM_002582.4(PARN):c.282G>A (p.Pro94=) rs1379435273 0.00001
NM_002582.4(PARN):c.306A>G (p.Pro102=) rs774805226 0.00001
NM_002582.4(PARN):c.327+10A>G rs773687682 0.00001
NM_002582.4(PARN):c.328-7G>C rs1972011983 0.00001
NM_002582.4(PARN):c.388+20A>G rs751866970 0.00001
NM_002582.4(PARN):c.388+8T>A rs1442127379 0.00001
NM_002582.4(PARN):c.405T>C (p.Asn135=) rs1396472633 0.00001
NM_002582.4(PARN):c.444A>G (p.Glu148=) rs770605231 0.00001
NM_002582.4(PARN):c.468A>G (p.Ala156=) rs758648769 0.00001
NM_002582.4(PARN):c.555-17C>G rs1971367421 0.00001
NM_002582.4(PARN):c.618C>T (p.Thr206=) rs776536192 0.00001
NM_002582.4(PARN):c.621-20C>G rs1265999446 0.00001
NM_002582.4(PARN):c.621-9T>C rs1487676322 0.00001
NM_002582.4(PARN):c.702+18C>G rs1413060694 0.00001
NM_002582.4(PARN):c.703-13T>C rs537606213 0.00001
NM_002582.4(PARN):c.714T>C (p.Tyr238=) rs1281930960 0.00001
NM_002582.4(PARN):c.726C>T (p.Ser242=) rs548666743 0.00001
NM_002582.4(PARN):c.72C>T (p.Phe24=) rs761469781 0.00001
NM_002582.4(PARN):c.75C>T (p.Phe25=) rs776309304 0.00001
NM_002582.4(PARN):c.784-14del rs780187561 0.00001
NM_002582.4(PARN):c.784-15T>C rs1466685577 0.00001
NM_002582.4(PARN):c.784-19T>C rs867919377 0.00001
NM_002582.4(PARN):c.840+13G>T rs747718824 0.00001
NM_002582.4(PARN):c.918+20G>A rs540580233 0.00001
NM_002582.4(PARN):c.918+9C>T rs1970307305 0.00001
NM_002582.4(PARN):c.919-20G>A rs1481971946 0.00001
NM_002582.4(PARN):c.1005+7T>A rs745655525
NM_002582.4(PARN):c.1005+7T>C rs745655525
NM_002582.4(PARN):c.1006-15C>A rs775075978
NM_002582.4(PARN):c.1006-8G>A
NM_002582.4(PARN):c.1020C>T (p.Asn340=) rs1476494198
NM_002582.4(PARN):c.1026C>T (p.Ser342=) rs1187288468
NM_002582.4(PARN):c.1036T>C (p.Leu346=) rs779193378
NM_002582.4(PARN):c.1081+13A>C rs2507859504
NM_002582.4(PARN):c.1081+18G>A rs2507859369
NM_002582.4(PARN):c.1081+19A>C rs2151753956
NM_002582.4(PARN):c.1082-20T>G rs1328215893
NM_002582.4(PARN):c.1082-6T>C
NM_002582.4(PARN):c.1089C>T (p.Ala363=) rs776536066
NM_002582.4(PARN):c.1110C>T (p.Asp370=) rs2507837319
NM_002582.4(PARN):c.1149C>G (p.Ala383=) rs770262812
NM_002582.4(PARN):c.1189C>T (p.Leu397=) rs1031462589
NM_002582.4(PARN):c.1192+12A>G
NM_002582.4(PARN):c.1192+19T>C rs1174995830
NM_002582.4(PARN):c.1193-12T>G rs1969497293
NM_002582.4(PARN):c.1193-14C>A rs2507818858
NM_002582.4(PARN):c.1193-14_1193-12del
NM_002582.4(PARN):c.1193-15T>G rs1969497448
NM_002582.4(PARN):c.1193-16T>C rs1969497587
NM_002582.4(PARN):c.1193-5A>G
NM_002582.4(PARN):c.1203C>T (p.Leu401=) rs2151749171
NM_002582.4(PARN):c.1206C>T (p.Ser402=) rs2507818306
NM_002582.4(PARN):c.1230C>G (p.Ala410=) rs1248602970
NM_002582.4(PARN):c.1239A>G (p.Lys413=)
NM_002582.4(PARN):c.1257T>C (p.Phe419=) rs2507817022
NM_002582.4(PARN):c.1262+19C>G rs527316482
NM_002582.4(PARN):c.1262+19C>T
NM_002582.4(PARN):c.1262+8A>G rs1969490477
NM_002582.4(PARN):c.1262+9T>G rs1969490324
NM_002582.4(PARN):c.1263-19T>C rs2507558953
NM_002582.4(PARN):c.1263-4G>A
NM_002582.4(PARN):c.1263-7C>T rs2151711061
NM_002582.4(PARN):c.1299A>C (p.Leu433=) rs2507557682
NM_002582.4(PARN):c.1319-12T>C
NM_002582.4(PARN):c.1319-15A>G
NM_002582.4(PARN):c.1319-17A>G rs892579157
NM_002582.4(PARN):c.1319-4G>T rs760900593
NM_002582.4(PARN):c.1323G>A (p.Gln441=)
NM_002582.4(PARN):c.1335T>C (p.Asp445=) rs1463679404
NM_002582.4(PARN):c.1338T>C (p.His446=) rs2151708615
NM_002582.4(PARN):c.1365A>G (p.Glu455=) rs1052939058
NM_002582.4(PARN):c.1374C>G (p.Thr458=) rs747799643
NM_002582.4(PARN):c.1374C>T (p.Thr458=)
NM_002582.4(PARN):c.1405+10A>C
NM_002582.4(PARN):c.1405+13T>G rs755334130
NM_002582.4(PARN):c.1405+8G>C rs373527624
NM_002582.4(PARN):c.1405+9C>T rs2507540695
NM_002582.4(PARN):c.1406-11T>G rs1967342646
NM_002582.4(PARN):c.1406-18T>G
NM_002582.4(PARN):c.1410C>T (p.Asn470=) rs2507523998
NM_002582.4(PARN):c.1440A>G (p.Ser480=)
NM_002582.4(PARN):c.1473A>C (p.Val491=)
NM_002582.4(PARN):c.1473A>G (p.Val491=) rs1967336524
NM_002582.4(PARN):c.1480+13G>A rs2151705615
NM_002582.4(PARN):c.1481-14dup rs748039977
NM_002582.4(PARN):c.1481-19T>G
NM_002582.4(PARN):c.1481-7C>T rs1319209697
NM_002582.4(PARN):c.1491C>T (p.Thr497=) rs750683123
NM_002582.4(PARN):c.1545A>G (p.Arg515=) rs2151597304
NM_002582.4(PARN):c.1581T>G (p.Thr527=) rs2151597266
NM_002582.4(PARN):c.1659C>T (p.Tyr553=)
NM_002582.4(PARN):c.1668T>C (p.Asn556=) rs2506912723
NM_002582.4(PARN):c.1670+12C>T rs2506912322
NM_002582.4(PARN):c.1670+13A>G rs2151597090
NM_002582.4(PARN):c.1670+17G>A rs116427010
NM_002582.4(PARN):c.1670+20A>G rs2506912163
NM_002582.4(PARN):c.1671-17C>T rs750157587
NM_002582.4(PARN):c.1674T>C (p.Phe558=) rs2151557113
NM_002582.4(PARN):c.1692A>G (p.Val564=) rs1596433626
NM_002582.4(PARN):c.1719A>G (p.Gln573=) rs2506561301
NM_002582.4(PARN):c.1764C>T (p.Asp588=) rs2506560255
NM_002582.4(PARN):c.177+11G>A rs2508639013
NM_002582.4(PARN):c.177+15T>C rs2508638940
NM_002582.4(PARN):c.1773T>C (p.Leu591=) rs528847015
NM_002582.4(PARN):c.1782C>G (p.Thr594=) rs187555579
NM_002582.4(PARN):c.1806A>T (p.Ser602=) rs2151556891
NM_002582.4(PARN):c.1818A>G (p.Lys606=) rs1331268805
NM_002582.4(PARN):c.1851G>A (p.Glu617=) rs1961223168
NM_002582.4(PARN):c.1864+11G>C
NM_002582.4(PARN):c.1864+14C>T rs2506557735
NM_002582.4(PARN):c.1864+19C>G rs771533054
NM_002582.4(PARN):c.1864+20G>C rs745406192
NM_002582.4(PARN):c.1864+9T>C rs2151556782
NM_002582.4(PARN):c.1865-6C>G rs2506454454
NM_002582.4(PARN):c.1865-9del rs2506454602
NM_002582.4(PARN):c.1875G>C (p.Ser625=) rs370090572
NM_002582.4(PARN):c.19+11G>A rs1171431217
NM_002582.4(PARN):c.19+14_19+28del rs2151827636
NM_002582.4(PARN):c.19+20C>G rs2508671674
NM_002582.4(PARN):c.198A>G (p.Leu66=) rs562694645
NM_002582.4(PARN):c.20-10T>A rs1972909220
NM_002582.4(PARN):c.20-14C>T rs996455976
NM_002582.4(PARN):c.20-20T>A rs2151826943
NM_002582.4(PARN):c.20-20T>C rs2151826943
NM_002582.4(PARN):c.20-8C>T rs747888634
NM_002582.4(PARN):c.204G>A (p.Gln68=)
NM_002582.4(PARN):c.210C>A (p.Gly70=) rs748166497
NM_002582.4(PARN):c.243A>G (p.Ser81=)
NM_002582.4(PARN):c.245+15C>G rs372872068
NM_002582.4(PARN):c.245+20G>T rs377105548
NM_002582.4(PARN):c.245+8G>T rs373621294
NM_002582.4(PARN):c.246-4C>A rs1217221773
NM_002582.4(PARN):c.246-4C>G rs1217221773
NM_002582.4(PARN):c.246-5C>T rs1972726752
NM_002582.4(PARN):c.246-6T>C rs2508625774
NM_002582.4(PARN):c.246-8T>C rs1302260953
NM_002582.4(PARN):c.249T>C (p.Tyr83=) rs2508625464
NM_002582.4(PARN):c.288C>T (p.Pro96=) rs2151823197
NM_002582.4(PARN):c.294T>C (p.Asn98=)
NM_002582.4(PARN):c.328-10T>C rs2151808861
NM_002582.4(PARN):c.351A>C (p.Ala117=)
NM_002582.4(PARN):c.388+11G>A rs2508493834
NM_002582.4(PARN):c.388+13G>A rs781377090
NM_002582.4(PARN):c.389-13A>C rs2508395790
NM_002582.4(PARN):c.389-15T>A rs1297092988
NM_002582.4(PARN):c.389-19T>C rs768266740
NM_002582.4(PARN):c.389-9C>T rs1467886184
NM_002582.4(PARN):c.396A>G (p.Pro132=) rs1971479823
NM_002582.4(PARN):c.459G>C (p.Ala153=) rs960463679
NM_002582.4(PARN):c.465T>C (p.Gly155=) rs1555508032
NM_002582.4(PARN):c.471A>C (p.Gly157=) rs2508392800
NM_002582.4(PARN):c.480C>T (p.Ser160=) rs2151797611
NM_002582.4(PARN):c.495C>T (p.Asn165=) rs2508391574
NM_002582.4(PARN):c.504A>G (p.Lys168=) rs1259011890
NM_002582.4(PARN):c.546C>T (p.Asp182=)
NM_002582.4(PARN):c.54C>T (p.Ala18=) rs2151826842
NM_002582.4(PARN):c.554+19A>G rs1971468748
NM_002582.4(PARN):c.554+20C>T rs2508388908
NM_002582.4(PARN):c.555-14T>C rs2151795461
NM_002582.4(PARN):c.555-6C>T rs2508357797
NM_002582.4(PARN):c.606A>G (p.Leu202=) rs2508356106
NM_002582.4(PARN):c.612A>G (p.Pro204=)
NM_002582.4(PARN):c.620+15A>G rs745949104
NM_002582.4(PARN):c.620+16C>T
NM_002582.4(PARN):c.620+9T>C rs1971361518
NM_002582.4(PARN):c.621-11T>C rs762551577
NM_002582.4(PARN):c.621-22_621-18del rs2151794051
NM_002582.4(PARN):c.621-4A>G rs2151794031
NM_002582.4(PARN):c.659+12T>C rs2151793951
NM_002582.4(PARN):c.659+18A>T rs2508333515
NM_002582.4(PARN):c.660-10T>C
NM_002582.4(PARN):c.660-11C>G rs2508285501
NM_002582.4(PARN):c.660-3dup rs1479090396
NM_002582.4(PARN):c.660-9T>G rs2508285406
NM_002582.4(PARN):c.666G>C (p.Pro222=) rs186335640
NM_002582.4(PARN):c.666G>T (p.Pro222=) rs186335640
NM_002582.4(PARN):c.669A>G (p.Lys223=) rs1179771709
NM_002582.4(PARN):c.684G>A (p.Glu228=) rs2508283215
NM_002582.4(PARN):c.702+10A>G
NM_002582.4(PARN):c.702+13A>G rs1889562135
NM_002582.4(PARN):c.702+17T>C rs2508281484
NM_002582.4(PARN):c.702+20A>G rs2508281447
NM_002582.4(PARN):c.703-11_703-10del rs1185087862
NM_002582.4(PARN):c.703-18C>G rs758764619
NM_002582.4(PARN):c.703-7C>G rs1220303511
NM_002582.4(PARN):c.762G>A (p.Gln254=)
NM_002582.4(PARN):c.783+11T>C rs2508224076
NM_002582.4(PARN):c.783+15T>C rs2151787317
NM_002582.4(PARN):c.784-16A>T rs2508125463
NM_002582.4(PARN):c.804G>C (p.Val268=) rs2151779883
NM_002582.4(PARN):c.840+8A>C rs2508122129
NM_002582.4(PARN):c.841-17A>C rs2507962221
NM_002582.4(PARN):c.841-7T>G rs772743842
NM_002582.4(PARN):c.841-8T>G
NM_002582.4(PARN):c.909T>C (p.Pro303=) rs2507959621
NM_002582.4(PARN):c.912G>A (p.Leu304=) rs1970307733
NM_002582.4(PARN):c.912G>C (p.Leu304=)
NM_002582.4(PARN):c.918+12G>T rs767639160
NM_002582.4(PARN):c.918+15G>A rs2507959065
NM_002582.4(PARN):c.919-6C>G
NM_002582.4(PARN):c.919-9G>C rs535395736
NM_002582.4(PARN):c.927T>C (p.Ser309=) rs2151757158
NM_002582.4(PARN):c.930G>A (p.Glu310=) rs1596758654
NM_002582.4(PARN):c.962+12T>A rs1166434181
NM_002582.4(PARN):c.962+16G>C rs1424080800
NM_002582.4(PARN):c.962+9T>C
NM_002582.4(PARN):c.963-18G>A rs1969746233
NM_002582.4(PARN):c.963-19_963-3del rs752630850
NM_002582.4(PARN):c.966C>T (p.Leu322=) rs763666862
NM_002582.4(PARN):c.97+16A>T
NM_002582.4(PARN):c.97+7del rs2508658378
NM_002582.4(PARN):c.97+9C>G rs746984542
NM_002582.4(PARN):c.97+9C>T rs746984542
NM_002582.4(PARN):c.97+9_97+12del rs1277830010
NM_002582.4(PARN):c.98-12C>G rs2151824794
NM_002582.4(PARN):c.98-14T>C rs775477610
NM_002582.4(PARN):c.98-5T>A rs2508640836
NM_002582.4(PARN):c.993A>G (p.Thr331=) rs2151754690
NM_002582.4(PARN):c.9A>T (p.Ile3=) rs1359611593

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