ClinVar Miner

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

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)	rs745795470	0.00001
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)	rs773779627
NM_207034.3(EDN3):c.334C>A (p.His112Asn)	rs977075341

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