ClinVar Miner

List of variants reported as likely pathogenic for Waardenburg syndrome type 1

Included ClinVar conditions (2):
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Total variants: 25
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HGVS dbSNP
NM_000248.3(MITF):c.710+1G>A rs1559749017
NM_181457.4(PAX3):c.1021C>T (p.Gln341Ter) rs1553572740
NM_181457.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181457.4(PAX3):c.1277C>A (p.Ser426Ter) rs369886550
NM_181457.4(PAX3):c.136dup (p.Ile46fs) rs1553594009
NM_181457.4(PAX3):c.1372_1375dup (p.Ser459fs) rs1553568831
NM_181457.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181457.4(PAX3):c.142G>T (p.Gly48Cys) rs1419548558
NM_181457.4(PAX3):c.149_160del (p.Pro50_Asn53del) rs1553593965
NM_181457.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522
NM_181457.4(PAX3):c.232G>T (p.Val78Leu) rs1553593917
NM_181457.4(PAX3):c.246C>A (p.Cys82Ter) rs777297575
NM_181457.4(PAX3):c.256A>T (p.Ile86Phe) rs1559320299
NM_181457.4(PAX3):c.269A>G (p.Tyr90Cys) rs1553593874
NM_181457.4(PAX3):c.452-9C>A rs1379006499
NM_181457.4(PAX3):c.464del (p.Ser155fs) rs1553592766
NM_181457.4(PAX3):c.482_484delinsTA (p.Lys161fs) rs1553592757
NM_181457.4(PAX3):c.524dup (p.Glu176fs) rs1553592713
NM_181457.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer) rs1553592703
NM_181457.4(PAX3):c.692T>C (p.Leu231Pro) rs1553575191
NM_181457.4(PAX3):c.727_739del (p.Tyr243fs) rs1553575179
NM_181457.4(PAX3):c.790C>T (p.Gln264Ter) rs1553575159
NM_181457.4(PAX3):c.791A>C (p.Gln264Pro) rs1553575157
NM_181457.4(PAX3):c.86-2A>G rs1553594069
NM_181457.4(PAX3):c.921del (p.Ser308fs) rs1553572946

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