ClinVar Miner

List of variants studied for pulmonary fibrosis and/or bone marrow failure, telomere-related by Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.1364A>T (p.His455Leu) rs781329984
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1601A>G (p.His534Arg)
NM_198253.3(TERT):c.2131-2A>G
NM_198253.3(TERT):c.2426_2427del (p.Phe809fs)
NM_198253.3(TERT):c.2583-2A>T
NM_198253.3(TERT):c.2599G>A (p.Val867Met) rs201159197
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198253.3(TERT):c.2991del (p.Cys998fs) rs1554038539
NM_198253.3(TERT):c.999CTC[1] (p.Ser335del) rs1170942980

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