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: 14
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GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)
NC_012920.1:m.8420_8421insATA rs1569484208
NC_012920.1:m.8751_8752insAAA rs1569484234
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) rs1057518920
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu) rs1567092020
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.4512del (p.Cys1505fs) rs41309766
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) rs1057518661

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