List of variants in gene PAX3 studied for Waardenburg syndrome type 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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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.540C>G (p.Ser180Arg)	rs200679164	0.00020
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)	rs148454691	0.00016
NM_181458.4(PAX3):c.683C>T (p.Ala228Val)	rs775433032	0.00001
NM_181458.4(PAX3):c.139A>C (p.Asn47His)	rs104893653
NM_181458.4(PAX3):c.142G>T (p.Gly48Cys)	rs1419548558
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp)	rs777297575
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)	rs104893651
NM_181458.4(PAX3):c.268T>C (p.Tyr90His)	rs104893654
NM_181458.4(PAX3):c.386_398del (p.Phe129fs)	rs1559318494
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)	rs772241382
NM_181458.4(PAX3):c.812G>A (p.Arg271His)	rs774528745
NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)	rs2106074565

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