ClinVar Miner

List of variants in gene AGK reported by Ambry Genetics

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_018238.4(AGK):c.803C>A (p.Thr268Asn) rs142779190 0.00115
NM_018238.4(AGK):c.743A>C (p.His248Pro) rs150160397 0.00051
NM_018238.4(AGK):c.742C>T (p.His248Tyr) rs78219214 0.00021
NM_018238.4(AGK):c.445A>G (p.Ile149Val) rs113986866 0.00009
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 0.00004
NM_018238.4(AGK):c.186G>T (p.Lys62Asn) rs199778260 0.00001
NM_018238.4(AGK):c.20C>T (p.Thr7Met) rs772374736 0.00001
NM_018238.4(AGK):c.390+1G>T rs777096695 0.00001
NM_018238.4(AGK):c.1020C>G (p.Ile340Met)
NM_018238.4(AGK):c.1114A>G (p.Thr372Ala)
NM_018238.4(AGK):c.1127C>T (p.Pro376Leu)
NM_018238.4(AGK):c.232A>T (p.Thr78Ser)
NM_018238.4(AGK):c.244A>G (p.Lys82Glu)
NM_018238.4(AGK):c.277A>G (p.Met93Val)
NM_018238.4(AGK):c.331G>C (p.Glu111Gln) rs145805257
NM_018238.4(AGK):c.413G>A (p.Arg138Gln)
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018238.4(AGK):c.424-6C>G
NM_018238.4(AGK):c.521A>G (p.His174Arg)
NM_018238.4(AGK):c.545T>C (p.Ile182Thr)
NM_018238.4(AGK):c.611T>C (p.Phe204Ser)
NM_018238.4(AGK):c.622G>A (p.Gly208Ser)
NM_018238.4(AGK):c.650C>G (p.Ala217Gly)
NM_018238.4(AGK):c.902A>G (p.Glu301Gly)
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)

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