ClinVar Miner

List of variants reported as likely benign for pulmonary fibrosis and/or bone marrow failure, telomere-related by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NR_001566.3(TERC):n.58G>A rs113487931 0.01733
NM_017612.5(ZCCHC8):c.1345+5G>A rs116783031 0.01008
NR_001566.3(TERC):n.228G>A rs141686314 0.00478
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.2079C>T (p.Phe693=) rs371759577 0.00011
NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=) rs774018403 0.00004
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_001283009.2(RTEL1):c.1266+11C>T rs2090575166 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.1110C>G (p.Pro370=) rs1579597009

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