ClinVar Miner

List of variants reported as uncertain significance for Frasier syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_024426.6(WT1):c.1158G>A (p.Ser386=) rs377446096 0.00009
NM_024426.6(WT1):c.314C>G (p.Ala105Gly) rs948061247 0.00008
NM_024426.6(WT1):c.1150G>A (p.Val384Ile) rs977244044 0.00004
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu) rs1014605516 0.00003
NM_024426.6(WT1):c.1092C>A (p.His364Gln) rs587778756 0.00002
NM_024426.6(WT1):c.218A>T (p.Gln73Leu) rs1036899554 0.00002
NM_024426.6(WT1):c.628T>G (p.Cys210Gly) rs776426005 0.00002
NM_024426.6(WT1):c.779C>T (p.Ser260Leu) rs1444869026 0.00002
NM_024426.6(WT1):c.1253G>T (p.Arg418Met) rs373176048 0.00001
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg) rs760370132 0.00001
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro) rs774228907 0.00001
NM_024426.6(WT1):c.1562C>T (p.Ala521Val) rs749266841 0.00001
NM_024426.6(WT1):c.223G>A (p.Gly75Ser) rs528076586 0.00001
NM_024426.6(WT1):c.26C>T (p.Pro9Leu) rs948132360 0.00001
NM_024426.6(WT1):c.386C>A (p.Pro129Gln) rs745435848 0.00001
NM_024426.6(WT1):c.439C>G (p.Gln147Glu) rs953087575 0.00001
NM_024426.6(WT1):c.459C>T (p.Gly153=) rs1309250331 0.00001
NM_024426.6(WT1):c.646G>A (p.Ala216Thr) rs778069787 0.00001
NM_024426.6(WT1):c.658C>A (p.Gln220Lys) rs373935628 0.00001
NM_024426.6(WT1):c.685G>A (p.Gly229Arg) rs767419243 0.00001
NM_024426.6(WT1):c.691C>T (p.Pro231Ser) rs766425764 0.00001
NM_024426.6(WT1):c.887+19C>G rs755113185 0.00001
NM_024426.6(WT1):c.1127T>C (p.Val376Ala) rs1180529775
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro) rs992930804
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser) rs1554939793
NM_024426.6(WT1):c.163G>A (p.Ala55Thr)
NM_024426.6(WT1):c.203G>A (p.Gly68Glu) rs1170323988
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr) rs1554946803
NM_024426.6(WT1):c.351C>T (p.Gly117=) rs1473590912
NM_024426.6(WT1):c.386C>T (p.Pro129Leu) rs745435848
NM_024426.6(WT1):c.591G>T (p.Gln197His) rs767850217
NM_024426.6(WT1):c.600G>A (p.Met200Ile) rs1060501257
NM_024426.6(WT1):c.653G>A (p.Arg218His) rs756414084
NM_024426.6(WT1):c.661+15G>T rs1362460137
NM_024426.6(WT1):c.722C>T (p.Ala241Val) rs1190263054
NM_024426.6(WT1):c.746T>G (p.Phe249Cys) rs777119782
NM_024426.6(WT1):c.785-14G>A rs375514482
NM_024426.6(WT1):c.989C>T (p.Ser330Leu) rs762688982

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