ClinVar Miner

List of variants reported as pathogenic for TEK-related primary glaucoma

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000459.5(TEK):c.448G>T (p.Glu150Ter) rs753021890 0.00003
NM_000459.5(TEK):c.1490-1G>A rs1380793724
NM_000459.5(TEK):c.154dup (p.His52fs) rs2131119729
NM_000459.5(TEK):c.3165C>A (p.Tyr1055Ter) rs1826003461
NM_000459.5(TEK):c.3251C>G (p.Ser1084Ter) rs2131266023
NM_000459.5(TEK):c.470_471insTGGT (p.Lys157fs) rs2131141182
NM_000459.5(TEK):c.921C>A (p.Tyr307Ter) rs541217363

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