ClinVar Miner

List of variants studied for pulmonary fibrosis and/or bone marrow failure, telomere-related by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_002582.4(PARN):c.19+4C>T rs748893191 0.00005
NM_002582.4(PARN):c.840G>A (p.Ser280=) rs200026431 0.00004
NM_001283009.2(RTEL1):c.263C>T (p.Ser88Phe) rs758172246
NM_001283009.2(RTEL1):c.3343+8G>A rs768036242
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=) rs919917378
NM_002582.4(PARN):c.758_759del (p.Glu253fs) rs2151787383
NM_017612.5(ZCCHC8):c.550G>A (p.Gly184Arg) rs2137340087
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2007G>A (p.Arg669=) rs1060504788
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204

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