ClinVar Miner

List of variants studied for TEK-related primary glaucoma by Genome-Nilou Lab

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.3063-49C>T rs667250 0.85116
NM_000459.5(TEK):c.761-40C>T rs666478 0.51926
NM_000459.5(TEK):c.2209+17A>G rs638203 0.47788
NM_000459.5(TEK):c.1962A>G (p.Ser654=) rs639225 0.45945
NM_000459.5(TEK):c.1037A>C (p.Gln346Pro) rs682632
NM_000459.5(TEK):c.2796C>T (p.Thr932=) rs770991197
NM_000459.5(TEK):c.3062+38dup rs57300282

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