List of variants in gene PAX3 reported as uncertain significance for Waardenburg syndrome

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: 24

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HGVS	dbSNP	gnomAD frequency
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.567C>T (p.Asp189=)	rs774455796	0.00012
NM_181458.4(PAX3):c.1420+103C>T	rs544726519	0.00007
NM_181458.4(PAX3):c.1248C>T (p.Thr416=)	rs376147620	0.00004
NM_181458.4(PAX3):c.1229A>T (p.Tyr410Phe)	rs886055675	0.00001
NM_181458.4(PAX3):c.1420+125T>G	rs886055674	0.00001
NM_181458.4(PAX3):c.683C>T (p.Ala228Val)	rs775433032	0.00001
NM_181458.4(PAX3):c.*3G>C	rs1574618272
NM_181458.4(PAX3):c.1204G>A (p.Val402Ile)	rs374318137
NM_181458.4(PAX3):c.1240C>T (p.Pro414Ser)	rs1691318066
NM_181458.4(PAX3):c.1253G>T (p.Gly418Val)	rs1691316648
NM_181458.4(PAX3):c.1420+112dup	rs368725878
NM_181458.4(PAX3):c.1420+165G>T	rs1395471577
NM_181458.4(PAX3):c.1420+201C>T	rs573451372
NM_181458.4(PAX3):c.142G>T (p.Gly48Cys)	rs1419548558
NM_181458.4(PAX3):c.144C>T (p.Gly48=)	rs1252612539
NM_181458.4(PAX3):c.227T>G (p.Leu76Arg)	rs1553593925
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys)	rs483353059
NM_181458.4(PAX3):c.293C>T (p.Pro98Leu)	rs1553593856
NM_181458.4(PAX3):c.342G>A (p.Val114=)	rs1020469778
NM_181458.4(PAX3):c.509C>A (p.Ala170Asp)
NM_181458.4(PAX3):c.730C>T (p.Pro244Ser)	rs1553575183
NM_181458.4(PAX3):c.818G>A (p.Arg273Lys)	rs1020175890

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