ClinVar Miner

List of variants in gene PAX3 reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_181458.4(PAX3):c.*3G>C rs1574618272
NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser)
NM_181458.4(PAX3):c.1029G>A (p.Thr343=) rs747502205
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839
NM_181458.4(PAX3):c.1145C>A (p.Pro382His)
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.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=)
NM_181458.4(PAX3):c.467G>C (p.Arg156Pro)
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) rs200679164
NM_181458.4(PAX3):c.567C>T (p.Asp189=)
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691
NM_181458.4(PAX3):c.730C>T (p.Pro244Ser) rs1553575183
NM_181458.4(PAX3):c.818G>A (p.Arg273Lys) rs1020175890
NM_181458.4(PAX3):c.958+9G>A rs185119406
NM_181458.4(PAX3):c.981C>T (p.Thr327=)

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