ClinVar Miner

List of variants studied for Waardenburg syndrome type 4B by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) rs372958987 0.00009
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) rs374697035 0.00005

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