ClinVar Miner

List of variants in gene TEK studied for TEK-related primary glaucoma

Included ClinVar conditions (1):
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Gene type:
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Total variants: 25
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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.2773G>A (p.Ala925Thr) rs138463877 0.00014
NM_000459.5(TEK):c.448G>T (p.Glu150Ter) rs753021890 0.00003
NM_000459.5(TEK):c.922G>A (p.Gly308Arg) rs752184169 0.00001
NM_000459.5(TEK):c.1037A>C (p.Gln346Pro) rs682632
NM_000459.5(TEK):c.1490-1G>A rs1380793724
NM_000459.5(TEK):c.154dup (p.His52fs) rs2131119729
NM_000459.5(TEK):c.2062A>G (p.Lys688Glu)
NM_000459.5(TEK):c.2796C>T (p.Thr932=) rs770991197
NM_000459.5(TEK):c.3011G>A (p.Trp1004Ter)
NM_000459.5(TEK):c.3062+38dup rs57300282
NM_000459.5(TEK):c.3165C>A (p.Tyr1055Ter) rs1826003461
NM_000459.5(TEK):c.3200+1G>A
NM_000459.5(TEK):c.3251C>G (p.Ser1084Ter) rs2131266023
NM_000459.5(TEK):c.3263T>C (p.Ile1088Thr) rs748930375
NM_000459.5(TEK):c.32G>A (p.Gly11Glu) rs2131018026
NM_000459.5(TEK):c.434del (p.Lys145fs)
NM_000459.5(TEK):c.470_471insTGGT (p.Lys157fs) rs2131141182
NM_000459.5(TEK):c.475+1G>T
NM_000459.5(TEK):c.578A>G (p.Tyr193Cys) rs1587545234
NM_000459.5(TEK):c.857G>T (p.Gly286Val) rs2131150099
NM_000459.5(TEK):c.921C>A (p.Tyr307Ter) rs541217363

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