ClinVar Miner

List of variants studied for Waardenburg syndrome type 4A

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Total variants: 14
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NM_001122659.3(EDNRB):c.-26G>A rs2070591
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser) rs760677132
NM_001122659.3(EDNRB):c.521del (p.Cys174fs) rs1458799604
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly) rs104894388
NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro) rs1555290659
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) rs768126403
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.791C>T (p.Ala264Val) rs1212186974
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
NM_006941.3(SOX10):c.429-1G>A rs1569169328
NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del) rs1569167515

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