ClinVar Miner

List of variants in gene PAX3 studied for Waardenburg syndrome

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Total variants: 35
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HGVS dbSNP
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924
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.1174-10G>C rs2855268
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.126C>A (p.Gly42=) rs369680052
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857
NM_181458.4(PAX3):c.1420+103C>T
NM_181458.4(PAX3):c.1420+104G>A rs142988099
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+186G>A
NM_181458.4(PAX3):c.1420+201C>T rs573451372
NM_181458.4(PAX3):c.1420+220C>T rs45624434
NM_181458.4(PAX3):c.1420+55C>T rs186207055
NM_181458.4(PAX3):c.144C>T (p.Gly48=)
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) rs267606931
NM_181458.4(PAX3):c.321+10C>A rs140960868
NM_181458.4(PAX3):c.342G>A (p.Val114=)
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352
NM_181458.4(PAX3):c.567C>T (p.Asp189=)
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691
NM_181458.4(PAX3):c.807C>T (p.Asn269=) rs45501393
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923
NM_181458.4(PAX3):c.879G>T (p.Gly293=) rs45522331
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675
NM_181458.4(PAX3):c.958+9G>A rs185119406
NM_181458.4(PAX3):c.981C>T (p.Thr327=)

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