ClinVar Miner

List of variants studied for Waardenburg syndrome type 1 by Laboratory of Human Genetics,Universidade de São Paulo

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_181457.3(PAX3):c.944C>A (p.Thr315Lys) rs2234675
NM_181459.3(PAX3):c.1195C>G (p.His399Asp) rs1553568937
NM_181459.3(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181459.3(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181459.3(PAX3):c.142G>T (p.Gly48Cys) rs1419548558
NM_181459.3(PAX3):c.149_160del (p.Pro50_Asn53del) rs1553593965
NM_181459.3(PAX3):c.464delG (p.Ser155Thrfs) rs1553592766
NM_181459.3(PAX3):c.727_739del (p.Tyr243Ilefs) rs1553575179
NM_181459.3(PAX3):c.790C>T (p.Gln264Ter) rs1553575159

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