ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser)
NM_181458.4(PAX3):c.1029G>A (p.Thr343=) rs747502205
NM_181458.4(PAX3):c.1204G>A (p.Val402Ile) rs374318137
NM_181458.4(PAX3):c.1229A>T (p.Tyr410Phe) rs886055675
NM_181458.4(PAX3):c.1240C>T (p.Pro414Ser)
NM_181458.4(PAX3):c.1248C>T (p.Thr416=) rs376147620
NM_181458.4(PAX3):c.1253G>T (p.Gly418Val)
NM_181458.4(PAX3):c.1420+103C>T
NM_181458.4(PAX3):c.1420+112dup rs368725878
NM_181458.4(PAX3):c.1420+125T>G rs886055674
NM_181458.4(PAX3):c.1420+165G>T
NM_181458.4(PAX3):c.1420+201C>T rs573451372
NM_181458.4(PAX3):c.144C>T (p.Gly48=)
NM_181458.4(PAX3):c.342G>A (p.Val114=)
NM_181458.4(PAX3):c.567C>T (p.Asp189=)
NM_181458.4(PAX3):c.958+9G>A rs185119406
NM_181458.4(PAX3):c.981C>T (p.Thr327=)

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