ClinVar Miner

List of variants studied for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.2141C>T (p.Thr714Met) rs772441504 0.00005
NM_198253.3(TERT):c.2321G>A (p.Arg774Gln) rs1579564912 0.00001
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn) rs1169312254 0.00001
NM_198253.3(TERT):c.1562G>T (p.Arg521Leu) rs1060503002
NM_198253.3(TERT):c.2152G>A (p.Asp718Asn) rs1579574994
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val) rs866575708
NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly) rs1751266537
NM_198253.3(TERT):c.3334C>A (p.Leu1112Met) rs1579541689
NM_198253.3(TERT):c.345C>G (p.Phe115Leu) rs1579598699

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