ClinVar Miner

List of variants studied for Waardenburg syndrome type 1 by Center for Human Genetics, Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
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Total variants: 28
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HGVS dbSNP
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.210C>A (p.Cys70Ter) rs1356246522
NM_181457.4(PAX3):c.218C>T (p.Ser73Leu) rs1553593928
NM_181457.4(PAX3):c.227T>G (p.Leu76Arg) rs1553593925
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.269A>G (p.Tyr90Cys) rs1553593874
NM_181457.4(PAX3):c.293C>T (p.Pro98Leu) rs1553593856
NM_181457.4(PAX3):c.452-9C>A rs1379006499
NM_181457.4(PAX3):c.482_484delinsTA (p.Lys161fs) rs1553592757
NM_181457.4(PAX3):c.524dup (p.Glu176fs) rs1553592713
NM_181457.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352
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.730C>T (p.Pro244Ser) rs1553575183
NM_181457.4(PAX3):c.784C>T (p.Arg262Ter) rs886041319
NM_181457.4(PAX3):c.791A>C (p.Gln264Pro) rs1553575157
NM_181457.4(PAX3):c.808C>T (p.Arg270Cys) rs1228590199
NM_181457.4(PAX3):c.811C>T (p.Arg271Cys) rs1380858784
NM_181457.4(PAX3):c.812G>A (p.Arg271His) rs774528745
NM_181457.4(PAX3):c.818G>A (p.Arg273Lys) rs1020175890
NM_181457.4(PAX3):c.86-2A>G rs1553594069
NM_181457.4(PAX3):c.921del (p.Ser308fs) rs1553572946

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