ClinVar Miner

List of variants studied for Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NR_001566.3(TERC):n.58G>A rs113487931 0.01607
NR_001566.3(TERC):n.108_111delCTGA rs199422270
NR_001566.3(TERC):n.116C>T rs199422272
NR_001566.3(TERC):n.143G>A rs199422274
NR_001566.3(TERC):n.204C>G rs199422277
NR_001566.3(TERC):n.212C>G rs2108183105
NR_001566.3(TERC):n.325G>T rs1777959964
NR_001566.3(TERC):n.72C>G rs199422265
NR_001566.3(TERC):n.98G>A rs199422268

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