ClinVar Miner

List of variants in gene EDNRB studied for Waardenburg syndrome type 4A

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP
NM_000115.5(EDNRB):c.550T>C (p.Ser184Pro) rs1555290659
NM_000115.5(EDNRB):c.57C>A (p.Cys19Ter)
NM_000115.5(EDNRB):c.791C>T (p.Ala264Val) rs1212186974
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser)
NM_001122659.3(EDNRB):c.521del (p.Cys174fs) rs1458799604
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly) rs104894388
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) rs104894391
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter) rs104894390
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe)
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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