ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_181457.4(PAX3):c.1195C>G (p.His399Asp) rs1553568937
NM_181457.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352
NM_181457.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675

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