List of variants in gene PAX3 reported as likely pathogenic by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg)	rs773327091
NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter)	rs369886550
NM_181458.4(PAX3):c.136dup (p.Ile46fs)	rs1553594009
NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs)	rs1553568831
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)	rs1356246522
NM_181458.4(PAX3):c.232G>T (p.Val78Leu)	rs1553593917
NM_181458.4(PAX3):c.246C>A (p.Cys82Ter)	rs777297575
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp)	rs777297575
NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys)	rs1553593874
NM_181458.4(PAX3):c.452-9C>A	rs1379006499
NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs)	rs1553592757
NM_181458.4(PAX3):c.524dup (p.Glu176fs)	rs1553592713
NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer)	rs1553592703
NM_181458.4(PAX3):c.692T>C (p.Leu231Pro)	rs1553575191
NM_181458.4(PAX3):c.791A>C (p.Gln264Pro)	rs1553575157
NM_181458.4(PAX3):c.86-2A>G	rs1553594069
NM_181458.4(PAX3):c.921del (p.Ser308fs)	rs1553572946

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