ClinVar Miner

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

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_016734.3(PAX5):c.923C>T (p.Ala308Val) rs35077960 0.00459
NM_016734.3(PAX5):c.6T>A (p.Asp2Glu) rs139701864 0.00235
NM_016734.3(PAX5):c.954C>T (p.His318=) rs144574685 0.00084
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu) rs137870876 0.00063
NM_016734.3(PAX5):c.910+9A>G rs191297254 0.00021
NM_016734.3(PAX5):c.825C>T (p.Asp275=) rs143317078 0.00014
NM_016734.3(PAX5):c.1013-7T>C rs369515008 0.00011
NM_016734.3(PAX5):c.244G>A (p.Val82Ile) rs587778589 0.00011
NM_016734.3(PAX5):c.1137C>T (p.Ala379=) rs139108915 0.00009
NM_016734.3(PAX5):c.1126G>A (p.Ala376Thr) rs528158465 0.00007
NM_016734.3(PAX5):c.1027G>A (p.Gly343Arg) rs139738432 0.00006
NM_016734.3(PAX5):c.1169G>A (p.Arg390His) rs771002648 0.00006
NM_016734.3(PAX5):c.662G>A (p.Arg221Gln) rs142210825 0.00006
NM_016734.3(PAX5):c.1026C>T (p.Ser342=) rs767690925 0.00005
NM_016734.3(PAX5):c.990G>A (p.Pro330=) rs145306022 0.00005
NM_016734.3(PAX5):c.630C>T (p.Asn210=) rs773198171 0.00004
NM_016734.3(PAX5):c.1099+12C>T rs199885584 0.00003
NM_016734.3(PAX5):c.717C>T (p.Arg239=) rs774702142 0.00003
NM_016734.3(PAX5):c.774C>T (p.Pro258=) rs113556063 0.00003
NM_016734.3(PAX5):c.234C>T (p.Ile78=) rs139492230 0.00002
NM_016734.3(PAX5):c.700C>T (p.Leu234=) rs756603249 0.00002
NM_016734.3(PAX5):c.822G>A (p.Leu274=) rs149708683 0.00002
NM_016734.3(PAX5):c.1089G>A (p.Pro363=) rs143965433 0.00001
NM_016734.3(PAX5):c.780+10G>A rs778319865 0.00001
NM_016734.3(PAX5):c.1100-11G>A rs149896434
NM_016734.3(PAX5):c.1161C>T (p.Ala387=) rs1292058964
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.957C>T (p.Val319=) rs563606361
NM_016734.3(PAX5):c.961C>T (p.Pro321Ser) rs543302698

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