ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 4B

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_207034.3(EDN3):c.262_263delinsT (p.Ala88fs) rs1568823517
NM_207034.3(EDN3):c.277C>G (p.Arg93Gly) rs267606779
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470
NM_207034.3(EDN3):c.335A>G (p.His112Arg) rs267606778
NM_207034.3(EDN3):c.476G>T (p.Cys159Phe) rs74315384
NM_207034.3(EDN3):c.507C>A (p.Cys169Ter) rs74315385

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