ClinVar Miner

List of variants in gene LOC110806263, TERT studied for anemia

Included ClinVar conditions (288):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.219+7C>T rs573817924 0.00034
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.189G>A (p.Arg63=) rs1554043134 0.00001
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.164T>A (p.Leu55Gln) rs387907247
NM_198253.3(TERT):c.219+1G>A rs199422309

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