ClinVar Miner

List of variants in gene PAX3 reported as likely pathogenic for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_181457.3(PAX3):c.242G>C (p.Gly81Ala) rs587776586
NM_181458.4(PAX3):c.1174-2A>G
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181458.4(PAX3):c.127G>A (p.Gly43Ser)
NM_181458.4(PAX3):c.139A>G (p.Asn47Asp)
NM_181458.4(PAX3):c.141C>G (p.Asn47Lys) rs104893652
NM_181458.4(PAX3):c.143G>T (p.Gly48Val)
NM_181458.4(PAX3):c.148C>A (p.Pro50Thr)
NM_181458.4(PAX3):c.178G>A (p.Val60Met)
NM_181458.4(PAX3):c.202C>T (p.Arg68Trp) rs2106203892
NM_181458.4(PAX3):c.218C>G (p.Ser73Trp)
NM_181458.4(PAX3):c.233T>A (p.Val78Glu) rs2106203794
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys) rs483353059
NM_181458.4(PAX3):c.242G>A (p.Gly81Asp) rs587776586
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_181458.4(PAX3):c.253A>G (p.Lys85Glu)
NM_181458.4(PAX3):c.290G>C (p.Arg97Pro) rs1695335992
NM_181458.4(PAX3):c.322-2A>G
NM_181458.4(PAX3):c.450A>G (p.Ser150=)
NM_181458.4(PAX3):c.530C>G (p.Ala177Gly)
NM_181458.4(PAX3):c.586G>A (p.Ala196Thr)
NM_181458.4(PAX3):c.793G>T (p.Val265Phe)

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