ClinVar Miner

List of variants in gene AGO1 studied for neurodevelopmental disorder

Included ClinVar conditions (779):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_012199.5(AGO1):c.1073A>G (p.Gln358Arg)
NM_012199.5(AGO1):c.1136G>A (p.Arg379His)
NM_012199.5(AGO1):c.1209G>A (p.Met403Ile)
NM_012199.5(AGO1):c.1217T>C (p.Val406Ala) rs2148715621
NM_012199.5(AGO1):c.1238C>T (p.Ala413Val)
NM_012199.5(AGO1):c.1249C>A (p.Gln417Lys)
NM_012199.5(AGO1):c.1376A>G (p.Gln459Arg)
NM_012199.5(AGO1):c.1594C>T (p.Arg532Cys)
NM_012199.5(AGO1):c.2035del (p.His679fs)
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012199.5(AGO1):c.538T>C (p.Phe180Leu)
NM_012199.5(AGO1):c.566C>T (p.Pro189Leu) rs1553154069
NM_012199.5(AGO1):c.569T>C (p.Leu190Pro) rs1645264815
NM_012199.5(AGO1):c.569T>G (p.Leu190Arg) rs1645264815
NM_012199.5(AGO1):c.583G>A (p.Glu195Lys) rs2148711374
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) rs2148711383

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