ClinVar Miner

List of variants in gene AGK reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
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.764C>T (p.Thr255Met) rs112625649 0.00015
NM_018238.4(AGK):c.445A>G (p.Ile149Val) rs113986866 0.00009
NM_018238.4(AGK):c.186G>T (p.Lys62Asn) rs199778260 0.00004
NM_018238.4(AGK):c.20C>T (p.Thr7Met) rs772374736 0.00002
NM_018238.4(AGK):c.108C>A (p.Asn36Lys) rs199611875 0.00001
NM_018238.4(AGK):c.881T>C (p.Leu294Pro) rs863223893 0.00001
NM_018238.4(AGK):c.1048A>G (p.Ser350Gly) rs863223894
NM_018238.4(AGK):c.11T>G (p.Phe4Cys)
NM_018238.4(AGK):c.124G>C (p.Ala42Pro) rs775499077
NM_018238.4(AGK):c.149G>T (p.Gly50Val)
NM_018238.4(AGK):c.25C>A (p.Arg9=) rs139967538
NM_018238.4(AGK):c.331G>C (p.Glu111Gln) rs145805257
NM_018238.4(AGK):c.339G>A (p.Met113Ile) rs2485379125
NM_018238.4(AGK):c.33C>A (p.His11Gln) rs1057524817
NM_018238.4(AGK):c.358A>G (p.Ile120Val)
NM_018238.4(AGK):c.373G>C (p.Asp125His)
NM_018238.4(AGK):c.66G>A (p.Leu22=)
NM_018238.4(AGK):c.671A>G (p.Tyr224Cys) rs1057521780
NM_018238.4(AGK):c.805C>T (p.Pro269Ser)
NM_018238.4(AGK):c.896G>C (p.Ser299Thr)

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