ClinVar Miner

List of variants reported as pathogenic for aortic valve disease 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
46;XY;t(1;5)(p35.3;q31.3)dn
GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)
NC_012920.1:m.8420_8421insATA
NC_012920.1:m.8751_8752insAAA
NM_004415.3(DSP):c.2528C>A (p.Ser843Ter) rs1057518920
NM_005585.4(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu) rs900988907
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala) rs768542939
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly)
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu)
NM_005585.5(SMAD6):c.794del (p.His265Profs)
NM_017617.4(NOTCH1):c.4512delC (p.Cys1505Valfs) rs41309766
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997
NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter) rs1057515422
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter) rs1057515423
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) rs1057518661
NOTCH1, PRO1797HIS

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