ClinVar Miner

List of variants in gene TEK reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000459.5(TEK):c.3123G>A (p.Gly1041=) rs2273719 0.22124
NM_000459.5(TEK):c.2976T>C (p.Tyr992=) rs3737188 0.17751
NM_000459.5(TEK):c.1456G>A (p.Val486Ile) rs1334811 0.06507
NM_000459.5(TEK):c.1680T>C (p.Asn560=) rs35357088 0.06246
NM_000459.5(TEK):c.2170G>A (p.Ala724Thr) rs4631561 0.02531
NM_000459.5(TEK):c.443T>C (p.Ile148Thr) rs35969327 0.01365
NM_000459.5(TEK):c.902-10C>T rs41272241 0.01308
NM_000459.5(TEK):c.2454G>C (p.Val818=) rs55789591 0.01078
NM_000459.5(TEK):c.138C>T (p.Ala46=) rs76223779 0.00772
NM_000459.5(TEK):c.2838C>T (p.Ala946=) rs45505400 0.00725
NM_000459.5(TEK):c.1346A>G (p.Asn449Ser) rs149684174 0.00351
NM_000459.5(TEK):c.3090G>A (p.Glu1030=) rs56133834 0.00121
NM_000459.5(TEK):c.1900C>T (p.Leu634Phe) rs35378598 0.00093
NM_000459.5(TEK):c.1869G>A (p.Gly623=) rs55979986 0.00042
NM_000459.5(TEK):c.1507A>G (p.Thr503Ala) rs200574110 0.00033
NM_000459.5(TEK):c.365-19G>A rs371486685 0.00023
NM_000459.5(TEK):c.1313A>G (p.Asn438Ser) rs189543659 0.00006
NM_000459.5(TEK):c.1789T>C (p.Leu597=) rs755053781 0.00002
NM_000459.5(TEK):c.1909+18C>G rs41303213 0.00002
NM_000459.5(TEK):c.858G>T (p.Gly286=) rs747484849 0.00002
NM_000459.5(TEK):c.1237C>T (p.Arg413Trp) rs534867466 0.00001
NM_000459.5(TEK):c.2545C>T (p.Arg849Trp) rs80338908 0.00001
NM_000459.5(TEK):c.2690A>G (p.Tyr897Cys) rs80338909
NM_000459.5(TEK):c.2880T>C (p.Phe960=) rs1554701677

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