C1848519[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526124	NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs)	EDNRB, EDNRB-AS1 (K422fs +1 more)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 4A	GUncertain significance
Select item 1333432	NM_001122659.3(EDNRB):c.801+1G>T	EDNRB, EDNRB-AS1	Single nucleotide variant (splice donor variant)	Waardenburg syndrome type 4A	GLikely pathogenic