ClinVar Miner

List of variants in gene PAX5 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu) rs137870876 0.00063
NM_016734.3(PAX5):c.1027G>A (p.Gly343Arg) rs139738432 0.00006
NM_016734.3(PAX5):c.1126G>A (p.Ala376Thr) rs528158465 0.00006
NM_016734.3(PAX5):c.662G>A (p.Arg221Gln) rs142210825 0.00006
NM_016734.3(PAX5):c.1169G>A (p.Arg390His) rs771002648 0.00003
NM_016734.3(PAX5):c.234C>T (p.Ile78=) rs139492230 0.00002
NM_016734.3(PAX5):c.605G>A (p.Gly202Asp) rs1210320854
NM_016734.3(PAX5):c.819G>C (p.Gly273=) rs1830348981
NM_016734.3(PAX5):c.961C>T (p.Pro321Ser) rs543302698

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