ClinVar Miner

List of variants studied for lung disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (132):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001013703.4(EIF2AK4):c.4562-8G>T rs2250402 0.92552
NM_001013703.4(EIF2AK4):c.4174-17G>T rs12916520 0.92503
NM_001013703.4(EIF2AK4):c.1667A>G (p.Glu556Gly) rs2307105 0.91697
NM_001013703.4(EIF2AK4):c.3408-14G>C rs2279580 0.35755
NM_001013703.4(EIF2AK4):c.4215C>T (p.Gly1405=) rs3207297 0.35044
NM_001013703.4(EIF2AK4):c.2249+7G>A rs34298786 0.34203
NM_001013703.4(EIF2AK4):c.*16G>A rs2898985 0.17137
NM_001013703.4(EIF2AK4):c.1321A>C (p.Ile441Leu) rs2291627 0.14091
NM_001013703.4(EIF2AK4):c.*5A>G rs4594236 0.12914
NM_001013703.4(EIF2AK4):c.3916G>T (p.Gly1306Cys) rs35602605 0.12451
NM_001013703.4(EIF2AK4):c.4562-12T>G rs7165452 0.01444
NM_001013703.4(EIF2AK4):c.-12C>A rs114097242 0.00965
NM_001013703.4(EIF2AK4):c.2058G>A (p.Pro686=) rs183711630 0.00626
NM_001013703.4(EIF2AK4):c.1660+12A>T rs55851223 0.00580
NM_001013703.4(EIF2AK4):c.4007A>G (p.Lys1336Arg) rs35480871 0.00518
NM_001013703.4(EIF2AK4):c.2020C>T (p.Pro674Ser) rs201342617 0.00354
NM_001013703.4(EIF2AK4):c.3159+12C>A rs2307103 0.00245
NM_001013703.4(EIF2AK4):c.2320-4T>G rs17848516 0.00210
NM_001013703.4(EIF2AK4):c.4303-9T>G rs3816898 0.00210
NM_001013703.4(EIF2AK4):c.2403+12G>A rs17848517 0.00209
NM_001013703.4(EIF2AK4):c.2662G>C (p.Asp888His) rs17848491 0.00190
NM_001013703.4(EIF2AK4):c.1968C>T (p.Ile656=) rs369621429 0.00147
NM_001013703.4(EIF2AK4):c.2394A>G (p.Leu798=) rs186026165 0.00134
NM_001013703.4(EIF2AK4):c.3129C>T (p.Ile1043=) rs148332808 0.00093
NM_001013703.4(EIF2AK4):c.3160-8T>C rs200938635 0.00093
NM_001013703.4(EIF2AK4):c.4851A>G (p.Lys1617=) rs144332775 0.00068
NM_001013703.4(EIF2AK4):c.744-11T>G rs201918333 0.00050
NM_001013703.4(EIF2AK4):c.3123T>G (p.Pro1041=) rs55727287 0.00048
NM_001089.3(ABCA3):c.3166G>A (p.Val1056Ile) rs34671771 0.00035
NM_001013703.4(EIF2AK4):c.1694T>C (p.Ile565Thr) rs541667530 0.00019
NM_001013703.4(EIF2AK4):c.420C>T (p.Pro140=) rs11543185 0.00007
NM_001013703.4(EIF2AK4):c.3766C>T (p.Arg1256Ter) rs587777207 0.00002
NM_001013703.4(EIF2AK4):c.1078C>T (p.Arg360Cys) rs750055012 0.00001
NM_001013703.4(EIF2AK4):c.3307C>T (p.Leu1103=) rs778131744 0.00001
NM_001013703.4(EIF2AK4):c.4806T>G (p.Thr1602=) rs1268708595 0.00001
NM_001013703.4(EIF2AK4):c.4892+12C>T rs371027516 0.00001
NM_001013703.4(EIF2AK4):c.1424C>T (p.Thr475Met)
NM_001013703.4(EIF2AK4):c.2025G>A (p.Leu675=) rs1237677524
NM_001013703.4(EIF2AK4):c.2205CGA[5] (p.Asp736_Asp737dup) rs377237751
NM_001013703.4(EIF2AK4):c.2249+15C>A rs367692390
NM_001013703.4(EIF2AK4):c.3358-13_3358-10del rs143968955
NM_001013703.4(EIF2AK4):c.3378G>A (p.Val1126=)
NM_001013703.4(EIF2AK4):c.4893-20TCTTT[2] rs138634589
NM_001013703.4(EIF2AK4):c.4901_4902del (p.Val1634fs) rs2035596973
NM_001013703.4(EIF2AK4):c.744-12T>A
NM_001013703.4(EIF2AK4):c.82C>T (p.Gln28Ter) rs2034029835

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