ClinVar Miner

List of variants studied for pulmonary fibrosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (20):
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Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NR_001566.3(TERC):n.58G>A rs113487931 0.01733
NM_002458.3(MUC5B):c.3834C>T (p.Thr1278=) rs55913363 0.01285
NM_017612.5(ZCCHC8):c.1345+5G>A rs116783031 0.01008
NR_001566.3(TERC):n.228G>A rs141686314 0.00478
NM_002458.3(MUC5B):c.16859C>T (p.Ala5620Val) rs113495521 0.00367
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_002458.3(MUC5B):c.3926C>T (p.Thr1309Met) rs200226020 0.00030
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_001283009.2(RTEL1):c.538+3A>G rs201706459 0.00024
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu) rs201682415 0.00022
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr) rs151214675 0.00019
NM_002458.3(MUC5B):c.2725G>A (p.Asp909Asn) rs80298911 0.00017
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile) rs561054389 0.00015
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln) rs373996455 0.00008
NM_002582.4(PARN):c.1006-11G>A rs746114163 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_001283009.2(RTEL1):c.2903G>C (p.Cys968Ser) rs375503989 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_001283009.2(RTEL1):c.2275C>G (p.Pro759Ala) rs775121139 0.00005
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_001283009.2(RTEL1):c.1004C>G (p.Pro335Arg) rs750272281 0.00004
NM_001283009.2(RTEL1):c.2579C>T (p.Ser860Phe) rs772872062 0.00004
NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=) rs774018403 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp) rs764349649 0.00003
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NR_001566.3(TERC):n.37A>G rs199422261 0.00003
NM_001283009.2(RTEL1):c.1266+3A>G rs889856101 0.00002
NM_001283009.2(RTEL1):c.1393C>T (p.His465Tyr) rs142928306 0.00002
NM_001283009.2(RTEL1):c.2414-14G>A rs770111225 0.00002
NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys) rs771452777 0.00002
NM_001283009.2(RTEL1):c.1266+11C>T rs2090575166 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.2866G>C (p.Val956Leu) rs942820151 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.895G>A (p.Val299Met) rs756624928 0.00001
NR_001566.3(TERC):n.35C>T rs199422260 0.00001
NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys) rs1219409480
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2980C>G (p.Leu994Val) rs2145449535
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn) rs367598119
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_002458.3(MUC5B):c.13164G>T (p.Thr4388=) rs370908099
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479

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