ClinVar Miner

List of variants studied for aortic disorder by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro) rs1213841516 0.00001
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) rs773847667 0.00001
NM_019055.6(ROBO4):c.703G>A (p.Val235Met) rs776228672 0.00001
NM_005585.5(SMAD6):c.86G>C (p.Gly29Ala) rs1411192932
NM_005744.5(ARIH1):c.131A>G (p.Glu44Gly) rs2063786716
NM_005744.5(ARIH1):c.43G>C (p.Glu15Gln) rs1052050835
NM_005744.5(ARIH1):c.511C>T (p.Arg171Ter) rs746505361
NM_019055.6(ROBO4):c.2389G>T (p.Glu797Ter) rs2135366023
Single allele

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