ClinVar Miner

List of variants studied for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_198253.3(TERT):c.3257G>A (p.Arg1086His) rs200288187 0.00021
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln) rs144779807 0.00011
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_198253.3(TERT):c.1760T>C (p.Ile587Thr) rs148882731 0.00004
NM_198253.3(TERT):c.1949G>A (p.Arg650Lys) rs190125817 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.2576G>A (p.Arg859Gln) rs755183437 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_198253.3(TERT):c.1142G>C (p.Arg381Pro) rs777343359 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.2012G>A (p.Arg671Gln) rs774381540 0.00003
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_198253.3(TERT):c.859G>A (p.Gly287Ser) rs746095609 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198253.3(TERT):c.968C>G (p.Pro323Arg) rs139342764 0.00003
NM_198253.3(TERT):c.1130G>A (p.Arg377His) rs756954938 0.00002
NM_198253.3(TERT):c.2744G>A (p.Gly915Asp) rs202033269 0.00002
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp) rs372140951 0.00001
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) rs754809046 0.00001
NM_198253.3(TERT):c.2702G>A (p.Arg901Gln) rs772974254 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
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.110G>A (p.Arg37Gln) rs1239502548
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009
NM_198253.3(TERT):c.1201G>T (p.Ala401Ser) rs370887827
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.1285G>A (p.Glu429Lys) rs1561213553
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.1327A>C (p.Thr443Pro) rs1030586939
NM_198253.3(TERT):c.1552G>A (p.Ala518Thr)
NM_198253.3(TERT):c.2006G>A (p.Arg669Gln) rs1749858434
NM_198253.3(TERT):c.2072G>A (p.Arg691His) rs202123213
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.2971-14C>T rs2126573743
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.440A>G (p.Asp147Gly)
NM_198253.3(TERT):c.559C>A (p.Pro187Thr) rs1751234467
NM_198253.3(TERT):c.567C>A (p.His189Gln) rs747935528
NM_198253.3(TERT):c.727G>A (p.Ala243Thr)
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204

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