ClinVar Miner

List of variants in gene TERT reported as benign for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.22202
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.01985
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00792
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00788
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00206
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_198253.3(TERT):c.1884C>T (p.Asp628=) rs143992655 0.00088
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00086
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00025
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00019

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