ClinVar Miner

List of variants studied for Waardenburg syndrome type 4A

Included ClinVar conditions (2):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) rs5348 0.98435
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034 0.00003
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile) rs201437745 0.00002
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser) rs760677132 0.00001
NM_001122659.3(EDNRB):c.791C>T (p.Ala264Val) rs1212186974 0.00001
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter) rs199927859 0.00001
NM_001122659.3(EDNRB):c.1085+1G>A
NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val) rs2137603390
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter) rs1566302937
NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs) rs2137599519
NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)
NM_001122659.3(EDNRB):c.41C>T (p.Ala14Val)
NM_001122659.3(EDNRB):c.430G>T (p.Ala144Ser)
NM_001122659.3(EDNRB):c.431C>T (p.Ala144Val)
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.677G>A (p.Trp226Ter)
NM_001122659.3(EDNRB):c.688G>C (p.Val230Leu)
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter) rs104894390
NM_001122659.3(EDNRB):c.777del (p.Val260fs) rs2137610942
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe) rs77132068
NM_001122659.3(EDNRB):c.801+1G>T rs2137610842
NM_001122659.3(EDNRB):c.801+2T>C rs2137610838
NM_001122659.3(EDNRB):c.886A>G (p.Met296Val)
NM_001122659.3(EDNRB):c.902del (p.Met300_Leu301insTer)
NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del) rs1569167515
NM_006941.4(SOX10):c.429-1G>A rs1569169328

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