ClinVar Miner

List of variants in gene combination LOC110806306, TERC reported as pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NR_001566.3(TERC):n.58G>A rs113487931 0.01733
NR_001566.3(TERC):n.107G>T rs1553915617
NR_001566.3(TERC):n.108_111delCTGA rs199422270
NR_001566.3(TERC):n.116C>T rs199422272
NR_001566.3(TERC):n.117A>C rs199422273
NR_001566.3(TERC):n.118_121GCGG[1] rs1553915612
NR_001566.3(TERC):n.143G>A rs199422274
NR_001566.3(TERC):n.178G>A rs199422275
NR_001566.3(TERC):n.180C>T rs199422276
NR_001566.3(TERC):n.204C>G rs199422277
NR_001566.3(TERC):n.212C>G rs2108183105
NR_001566.3(TERC):n.26_32delGGGTGGT rs199422259
NR_001566.3(TERC):n.305G>A rs199422279
NR_001566.3(TERC):n.322G>A rs199422280
NR_001566.3(TERC):n.323C>T rs199422281
NR_001566.3(TERC):n.325G>T rs1777959964
NR_001566.3(TERC):n.69_74dup rs1553915621
NR_001566.3(TERC):n.72C>G rs199422265
NR_001566.3(TERC):n.98G>A rs199422268

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