ClinVar Miner

List of variants studied for pulmonary fibrosis by Genome-Nilou Lab

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
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.538+160A>T rs6010998 0.80886
NM_001283009.2(RTEL1):c.395+164T>C rs2297433 0.80867
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.80403
NM_001283009.2(RTEL1):c.1349-135G>C rs6062490 0.80375
NM_001283009.2(RTEL1):c.1596-28T>C rs2738785 0.80364
NM_001283009.2(RTEL1):c.1038-104G>A rs2297438 0.79847
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_017612.5(ZCCHC8):c.1140+29A>G rs10846978 0.76348
NM_017612.5(ZCCHC8):c.200-44T>C rs7314638 0.75710
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 0.44154
NM_001098668.4(SFTPA2):c.292+21G>A rs17884396 0.33614
NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=) rs1965707 0.30862
NM_001098668.4(SFTPA2):c.667C>A (p.Gln223Lys) rs1965708 0.25261
NM_001283009.2(RTEL1):c.766-19G>A rs2297437 0.25212
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.22202
NM_001283009.2(RTEL1):c.1636+29C>G rs2777940 0.14402
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10382
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06661
NM_002458.3(MUC5B):c.12537G>C (p.Gln4179His) rs185838223 0.06351
NM_198253.3(TERT):c.1573+39G>C rs79662648 0.02744
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00332
NM_001098668.4(SFTPA2):c.-23-5G>A rs1650232
NM_001283009.2(RTEL1):c.1637-50A>C rs2777941
NM_001283009.2(RTEL1):c.2557-89G>C rs2236507
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=) rs3848672
NM_001283009.2(RTEL1):c.615-149C>G rs7261546
NM_002458.3(MUC5B):c.2041A>G (p.Ser681Gly) rs76956995
NM_002458.3(MUC5B):c.2045A>G (p.Asp682Gly) rs202127660

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