ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 281
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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 0.00051
NM_002582.4(PARN):c.1464C>T (p.Pro488=) rs61748886 0.00050
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.1406-9C>T rs530099133 0.00019
NM_002582.4(PARN):c.389-8G>A rs200322751 0.00019
NM_002582.4(PARN):c.1193-8T>G rs372257813 0.00013
NM_002582.4(PARN):c.1405+7C>T rs529494184 0.00011
NM_002582.4(PARN):c.1131C>T (p.His377=) rs200644588 0.00010
NM_002582.4(PARN):c.1572A>G (p.Arg524=) rs370717086 0.00010
NM_002582.4(PARN):c.703-6T>C rs370304152 0.00010
NM_002582.4(PARN):c.703-13T>C rs537606213 0.00009
NM_002582.4(PARN):c.1320G>A (p.Leu440=) rs376352894 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.1773T>G (p.Leu591=) rs528847015 0.00006
NM_002582.4(PARN):c.328-16G>A rs372305239 0.00006
NM_002582.4(PARN):c.1081+17G>A rs772169396 0.00004
NM_002582.4(PARN):c.1082-9T>C rs750247475 0.00004
NM_002582.4(PARN):c.1101A>G (p.Pro367=) rs199737339 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.918+18C>T rs751944132 0.00004
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.1527T>C (p.Tyr509=) rs752381488 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.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.1192+7A>G rs766337795 0.00002
NM_002582.4(PARN):c.1377C>T (p.Ser459=) rs530411927 0.00002
NM_002582.4(PARN):c.1392T>C (p.Leu464=) rs550989940 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.328-8dup rs778705967 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.876C>T (p.Asp292=) rs759199788 0.00002
NM_002582.4(PARN):c.1005+12T>C rs370455325 0.00001
NM_002582.4(PARN):c.1044G>A (p.Lys348=) rs550419061 0.00001
NM_002582.4(PARN):c.1152C>T (p.Tyr384=) rs781722636 0.00001
NM_002582.4(PARN):c.1182C>G (p.Ala394=) rs753507535 0.00001
NM_002582.4(PARN):c.135T>C (p.Asn45=) rs181642805 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.1620C>T (p.Asn540=) rs550755432 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.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.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.20-8C>A rs747888634 0.00001
NM_002582.4(PARN):c.282G>A (p.Pro94=) rs1379435273 0.00001
NM_002582.4(PARN):c.328-7G>C rs1972011983 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.784-15T>C rs1466685577 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.1005+10A>G
NM_002582.4(PARN):c.1005+11T>C
NM_002582.4(PARN):c.1005+17A>G rs953216938
NM_002582.4(PARN):c.1005+7T>A
NM_002582.4(PARN):c.1005+7T>C
NM_002582.4(PARN):c.1006-15C>A
NM_002582.4(PARN):c.1020C>T (p.Asn340=)
NM_002582.4(PARN):c.1026C>T (p.Ser342=)
NM_002582.4(PARN):c.1036T>C (p.Leu346=)
NM_002582.4(PARN):c.1081+13A>C
NM_002582.4(PARN):c.1081+14A>G
NM_002582.4(PARN):c.1081+18G>A
NM_002582.4(PARN):c.1081+19A>C rs2151753956
NM_002582.4(PARN):c.1082-20T>G
NM_002582.4(PARN):c.1086T>C (p.Ser362=)
NM_002582.4(PARN):c.1089C>G (p.Ala363=)
NM_002582.4(PARN):c.1089C>T (p.Ala363=) rs776536066
NM_002582.4(PARN):c.1110C>T (p.Asp370=)
NM_002582.4(PARN):c.1149C>G (p.Ala383=)
NM_002582.4(PARN):c.1161G>A (p.Gly387=)
NM_002582.4(PARN):c.1189C>T (p.Leu397=)
NM_002582.4(PARN):c.1192+10A>G
NM_002582.4(PARN):c.1192+14G>A
NM_002582.4(PARN):c.1192+19T>C
NM_002582.4(PARN):c.1192+9T>C
NM_002582.4(PARN):c.1193-12T>G
NM_002582.4(PARN):c.1193-14C>A
NM_002582.4(PARN):c.1193-15T>G
NM_002582.4(PARN):c.1193-16T>C rs1969497587
NM_002582.4(PARN):c.1203C>T (p.Leu401=) rs2151749171
NM_002582.4(PARN):c.1206C>T (p.Ser402=)
NM_002582.4(PARN):c.1230C>G (p.Ala410=)
NM_002582.4(PARN):c.1242C>T (p.Leu414=)
NM_002582.4(PARN):c.1257T>C (p.Phe419=)
NM_002582.4(PARN):c.1262+19C>G
NM_002582.4(PARN):c.1262+8A>G
NM_002582.4(PARN):c.1262+9T>G rs1969490324
NM_002582.4(PARN):c.1263-19T>C
NM_002582.4(PARN):c.1263-7C>T rs2151711061
NM_002582.4(PARN):c.1263-9T>G
NM_002582.4(PARN):c.1299A>C (p.Leu433=)
NM_002582.4(PARN):c.1318+10T>A
NM_002582.4(PARN):c.1319-17A>G
NM_002582.4(PARN):c.1319-4G>T rs760900593
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=)
NM_002582.4(PARN):c.1405+11A>C
NM_002582.4(PARN):c.1405+13T>G
NM_002582.4(PARN):c.1405+17G>C
NM_002582.4(PARN):c.1405+8G>C rs373527624
NM_002582.4(PARN):c.1405+9C>T
NM_002582.4(PARN):c.1406-11T>G
NM_002582.4(PARN):c.1410C>T (p.Asn470=)
NM_002582.4(PARN):c.1473A>G (p.Val491=) rs1967336524
NM_002582.4(PARN):c.1476G>A (p.Lys492=)
NM_002582.4(PARN):c.1480+13G>A rs2151705615
NM_002582.4(PARN):c.1481-14dup rs748039977
NM_002582.4(PARN):c.1481-6T>G
NM_002582.4(PARN):c.1481-7C>T
NM_002582.4(PARN):c.1491C>T (p.Thr497=) rs750683123
NM_002582.4(PARN):c.1530T>G (p.Ala510=)
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.1670+12C>T
NM_002582.4(PARN):c.1670+13A>G rs2151597090
NM_002582.4(PARN):c.1670+17G>A
NM_002582.4(PARN):c.1670+20A>G
NM_002582.4(PARN):c.1671-17C>T
NM_002582.4(PARN):c.1671-18C>T
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=)
NM_002582.4(PARN):c.1740C>T (p.Asp580=)
NM_002582.4(PARN):c.1764C>T (p.Asp588=)
NM_002582.4(PARN):c.177+11G>A
NM_002582.4(PARN):c.177+15T>C
NM_002582.4(PARN):c.1773T>C (p.Leu591=)
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+14C>T
NM_002582.4(PARN):c.1864+19C>G
NM_002582.4(PARN):c.1864+20G>A
NM_002582.4(PARN):c.1864+20G>C
NM_002582.4(PARN):c.1864+9T>C rs2151556782
NM_002582.4(PARN):c.1865-6C>G
NM_002582.4(PARN):c.1865-9del
NM_002582.4(PARN):c.1875G>A (p.Ser625=) rs370090572
NM_002582.4(PARN):c.1875G>C (p.Ser625=)
NM_002582.4(PARN):c.19+11G>A
NM_002582.4(PARN):c.19+14_19+28del rs2151827636
NM_002582.4(PARN):c.19+20C>G
NM_002582.4(PARN):c.198A>C (p.Leu66=)
NM_002582.4(PARN):c.20-10T>A rs1972909220
NM_002582.4(PARN):c.20-14C>T rs996455976
NM_002582.4(PARN):c.20-16T>G
NM_002582.4(PARN):c.20-19C>T
NM_002582.4(PARN):c.20-20T>A
NM_002582.4(PARN):c.20-20T>C rs2151826943
NM_002582.4(PARN):c.20-5C>T
NM_002582.4(PARN):c.20-8C>T rs747888634
NM_002582.4(PARN):c.210C>A (p.Gly70=) rs748166497
NM_002582.4(PARN):c.245+15C>G
NM_002582.4(PARN):c.245+20G>T rs377105548
NM_002582.4(PARN):c.245+8G>T
NM_002582.4(PARN):c.246-4C>A
NM_002582.4(PARN):c.246-4C>G
NM_002582.4(PARN):c.246-5C>T
NM_002582.4(PARN):c.246-6T>C
NM_002582.4(PARN):c.246-8T>C
NM_002582.4(PARN):c.249T>C (p.Tyr83=)
NM_002582.4(PARN):c.288C>T (p.Pro96=) rs2151823197
NM_002582.4(PARN):c.306A>G (p.Pro102=) rs774805226
NM_002582.4(PARN):c.327+15T>C
NM_002582.4(PARN):c.328-10T>C rs2151808861
NM_002582.4(PARN):c.388+11G>A
NM_002582.4(PARN):c.388+13G>A rs781377090
NM_002582.4(PARN):c.388+20A>G
NM_002582.4(PARN):c.388+8T>A
NM_002582.4(PARN):c.389-13A>C
NM_002582.4(PARN):c.389-15T>A
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.405T>C (p.Asn135=)
NM_002582.4(PARN):c.444A>G (p.Glu148=)
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.468A>G (p.Ala156=)
NM_002582.4(PARN):c.471A>C (p.Gly157=)
NM_002582.4(PARN):c.480C>T (p.Ser160=) rs2151797611
NM_002582.4(PARN):c.495C>T (p.Asn165=)
NM_002582.4(PARN):c.504A>G (p.Lys168=)
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
NM_002582.4(PARN):c.555-14T>C rs2151795461
NM_002582.4(PARN):c.555-17C>G
NM_002582.4(PARN):c.555-6C>T
NM_002582.4(PARN):c.606A>G (p.Leu202=)
NM_002582.4(PARN):c.620+15A>G
NM_002582.4(PARN):c.620+9T>C
NM_002582.4(PARN):c.621-11T>C
NM_002582.4(PARN):c.621-22_621-18del rs2151794051
NM_002582.4(PARN):c.621-4A>G rs2151794031
NM_002582.4(PARN):c.621-9T>C
NM_002582.4(PARN):c.639T>C (p.Ile213=)
NM_002582.4(PARN):c.659+12T>C rs2151793951
NM_002582.4(PARN):c.659+18A>T
NM_002582.4(PARN):c.660-11C>G
NM_002582.4(PARN):c.660-3dup
NM_002582.4(PARN):c.660-9T>G
NM_002582.4(PARN):c.666G>A (p.Pro222=)
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=)
NM_002582.4(PARN):c.684G>A (p.Glu228=)
NM_002582.4(PARN):c.702+13A>G
NM_002582.4(PARN):c.702+17T>C
NM_002582.4(PARN):c.702+18C>G
NM_002582.4(PARN):c.702+20A>G
NM_002582.4(PARN):c.703-11_703-10del rs1185087862
NM_002582.4(PARN):c.703-15C>T
NM_002582.4(PARN):c.703-18C>G
NM_002582.4(PARN):c.703-7C>G
NM_002582.4(PARN):c.714T>C (p.Tyr238=) rs1281930960
NM_002582.4(PARN):c.723C>T (p.Ile241=)
NM_002582.4(PARN):c.726C>T (p.Ser242=)
NM_002582.4(PARN):c.72C>T (p.Phe24=)
NM_002582.4(PARN):c.75C>T (p.Phe25=)
NM_002582.4(PARN):c.783+11T>C
NM_002582.4(PARN):c.783+15T>C rs2151787317
NM_002582.4(PARN):c.783+9G>T
NM_002582.4(PARN):c.784-14del
NM_002582.4(PARN):c.784-16A>T
NM_002582.4(PARN):c.784-19T>C rs867919377
NM_002582.4(PARN):c.804G>C (p.Val268=) rs2151779883
NM_002582.4(PARN):c.840+16T>C
NM_002582.4(PARN):c.840+8A>C
NM_002582.4(PARN):c.841-17A>C
NM_002582.4(PARN):c.841-7T>G
NM_002582.4(PARN):c.909T>C (p.Pro303=)
NM_002582.4(PARN):c.912G>A (p.Leu304=) rs1970307733
NM_002582.4(PARN):c.918+12G>T rs767639160
NM_002582.4(PARN):c.918+15G>A
NM_002582.4(PARN):c.918+9C>T
NM_002582.4(PARN):c.919-20G>A
NM_002582.4(PARN):c.919-9G>C
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
NM_002582.4(PARN):c.962+16G>C rs1424080800
NM_002582.4(PARN):c.963-18G>A
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+7del
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
NM_002582.4(PARN):c.98-5T>A
NM_002582.4(PARN):c.993A>G (p.Thr331=) rs2151754690
NM_002582.4(PARN):c.9A>T (p.Ile3=) rs1359611593

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