ClinVar Miner

List of variants studied for aortic valve disease 1 by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter) rs1057518788
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) rs1057518920
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) rs768625801
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.5430G>C (p.Gln1810His)
NM_017617.5(NOTCH1):c.559G>A (p.Gly187Arg)
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) rs751007903

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