ClinVar Miner

List of variants in gene PAX3 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857 0.84982
NM_181458.4(PAX3):c.1174-10G>C rs2855268 0.11848
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675 0.02573
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092 0.01003
NM_181458.4(PAX3):c.879G>T (p.Gly293=) rs45522331 0.00653
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352 0.00287
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923 0.00170
NM_181458.4(PAX3):c.807C>T (p.Asn269=) rs45501393 0.00027
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052 0.00026
NM_181458.4(PAX3):c.1197C>T (p.His399=) rs377508524 0.00016
NM_181458.4(PAX3):c.924G>A (p.Ser308=) rs199952493 0.00010
NM_181458.4(PAX3):c.484T>C (p.Phe162Leu) rs148977636 0.00009
NM_181458.4(PAX3):c.321+8G>A rs766942977 0.00006
NM_181458.4(PAX3):c.572T>C (p.Ile191Thr) rs199560470 0.00002
NM_181458.4(PAX3):c.*239C>A
NM_181458.4(PAX3):c.1367C>T (p.Thr456Ile)
NM_181458.4(PAX3):c.1371_1376delinsGTCCACC (p.Tyr458fs)
NM_181458.4(PAX3):c.185T>A (p.Met62Lys) rs2106203964
NM_181458.4(PAX3):c.295G>T (p.Gly99Cys)
NM_181458.4(PAX3):c.444G>T (p.Val148=)
NM_181458.4(PAX3):c.586+29T>C
NM_181458.4(PAX3):c.586+407C>T
NM_181458.4(PAX3):c.586+52C>A rs201251689
NM_181458.4(PAX3):c.668G>T (p.Arg223Leu)
NM_181458.4(PAX3):c.768G>A (p.Ala256=)
NM_181458.4(PAX3):c.793-4A>G
NM_181458.4(PAX3):c.813dup (p.Ala272fs)
NM_181458.4(PAX3):c.863A>G (p.His288Arg)

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