ClinVar Miner

List of variants reported as uncertain significance for Myhre syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP
NM_005359.5(SMAD4):c.*1177G>A rs886053899
NM_005359.5(SMAD4):c.*1277G>T rs886053900
NM_005359.5(SMAD4):c.*1457C>T rs886053901
NM_005359.5(SMAD4):c.*1512dupT rs755827115
NM_005359.5(SMAD4):c.*1564_*1567delAATA rs886053903
NM_005359.5(SMAD4):c.*1801A>G rs886053904
NM_005359.5(SMAD4):c.*202A>G rs765823244
NM_005359.5(SMAD4):c.*218A>G rs886053895
NM_005359.5(SMAD4):c.*2354G>A rs886053905
NM_005359.5(SMAD4):c.*241T>C rs886053896
NM_005359.5(SMAD4):c.*2461C>T rs886053906
NM_005359.5(SMAD4):c.*2630A>G rs768569083
NM_005359.5(SMAD4):c.*2674A>G rs886053907
NM_005359.5(SMAD4):c.*2682T>C rs557955183
NM_005359.5(SMAD4):c.*2693A>G rs778780100
NM_005359.5(SMAD4):c.*2707_*2711delCTTTA rs769541605
NM_005359.5(SMAD4):c.*2793T>G rs886053909
NM_005359.5(SMAD4):c.*2962C>T rs543699844
NM_005359.5(SMAD4):c.*30A>C rs767288576
NM_005359.5(SMAD4):c.*3109T>C rs886053910
NM_005359.5(SMAD4):c.*3186T>C rs886053911
NM_005359.5(SMAD4):c.*3286A>T rs886053912
NM_005359.5(SMAD4):c.*3506C>T rs886053913
NM_005359.5(SMAD4):c.*3638T>G rs886053914
NM_005359.5(SMAD4):c.*3843G>A rs886053915
NM_005359.5(SMAD4):c.*4085C>A rs886053917
NM_005359.5(SMAD4):c.*4987T>C rs188228460
NM_005359.5(SMAD4):c.*4991dupT rs886053919
NM_005359.5(SMAD4):c.*5004_*5005dupTT rs113155703
NM_005359.5(SMAD4):c.*5096C>A rs761008429
NM_005359.5(SMAD4):c.*5235C>G rs755051361
NM_005359.5(SMAD4):c.*5530T>C rs886053921
NM_005359.5(SMAD4):c.*5535_*5540delACGCGC rs147193925
NM_005359.5(SMAD4):c.*5535_*5545delACGCGCGCGCGinsGCGCACA rs886053923
NM_005359.5(SMAD4):c.*5535_*5547delACGCGCGCGCGCAinsGCG rs886053924
NM_005359.5(SMAD4):c.*5535_*5549delACGCGCGCGCGCACAinsG rs886053925
NM_005359.5(SMAD4):c.*5543_*5546dupGCGC rs68159021
NM_005359.5(SMAD4):c.*5545G>A rs752846586
NM_005359.5(SMAD4):c.*5545_*5546delGC rs68159021
NM_005359.5(SMAD4):c.*5546_*5547insGCAC rs1555688055
NM_005359.5(SMAD4):c.*5546_*5547insGCACAC rs1555688055
NM_005359.5(SMAD4):c.*5546_*5547insGCACACAC rs1555688055
NM_005359.5(SMAD4):c.*5546_*5547insGCACACACAC rs1555688055
NM_005359.5(SMAD4):c.*5551A>G rs202140561
NM_005359.5(SMAD4):c.*5564_*5577dupCACACACACACACA rs56017493
NM_005359.5(SMAD4):c.*5570_*5577dupCACACACA rs56017493
NM_005359.5(SMAD4):c.*5572_*5577delCACACA rs56017493
NM_005359.5(SMAD4):c.*5574_*5577delCACA rs56017493
NM_005359.5(SMAD4):c.*5576C>G rs886053930
NM_005359.5(SMAD4):c.*5576_*5577delCA rs56017493
NM_005359.5(SMAD4):c.*5576_*5577dupCA rs56017493
NM_005359.5(SMAD4):c.*5578G>C rs867684157
NM_005359.5(SMAD4):c.*5757dupT rs886053931
NM_005359.5(SMAD4):c.*5791C>T rs886053932
NM_005359.5(SMAD4):c.*5874C>T rs886053933
NM_005359.5(SMAD4):c.*5985A>G rs886053934
NM_005359.5(SMAD4):c.*6057G>T rs886053935
NM_005359.5(SMAD4):c.*6162_*6165delGATT rs886053936
NM_005359.5(SMAD4):c.*6408C>T rs557992238
NM_005359.5(SMAD4):c.*81T>G rs886053894
NM_005359.5(SMAD4):c.*837A>G rs886053897
NM_005359.5(SMAD4):c.*850G>A rs886053898
NM_005359.5(SMAD4):c.-128+12A>G rs886053891
NM_005359.5(SMAD4):c.-233G>C rs886053890
NM_005359.5(SMAD4):c.-313C>A rs886053889
NM_005359.5(SMAD4):c.-333C>A rs886053888
NM_005359.5(SMAD4):c.-3C>A rs886053892
NM_005359.5(SMAD4):c.-476C>A rs886053887
NM_005359.5(SMAD4):c.-495C>G rs886053886
NM_005359.5(SMAD4):c.-503_-501delACA rs886053885
NM_005359.5(SMAD4):c.1644A>G (p.Pro548=) rs756795016
NM_005359.5(SMAD4):c.249+10A>C rs752243771
NM_005359.5(SMAD4):c.667+3G>A rs757971589
NM_005359.5(SMAD4):c.87T>G (p.Gly29=) rs886053893

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