ClinVar Miner

List of variants studied for Waardenburg syndrome by Mendelics

Included ClinVar conditions (21):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)	rs11570351	0.00164
NM_001122659.3(EDNRB):c.-26G>A	rs2070591	0.00043
NM_181458.4(PAX3):c.239A>G (p.His80Arg)	rs1574771535
NM_181458.4(PAX3):c.879dup (p.Phe294fs)	rs1553572967
NM_207034.3(EDN3):c.565dup (p.Thr189fs)	rs11570344

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