ClinVar Miner

List of variants studied for Waardenburg syndrome type 4A by Center for Human Genetics, Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000115.5(EDNRB):c.550T>C (p.Ser184Pro) rs1555290659
NM_001122659.3(EDNRB):c.521del (p.Cys174fs) rs1458799604
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) rs104894391
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile) rs201437745

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