ClinVar Miner

List of variants reported as uncertain significance for aortic valve disease 1 by Centre of Medical Genetics, University of Antwerp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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GRCh37/hg19 13q22.1(chr13:74152544-74283131)
GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008)
GRCh37/hg19 19p12(chr19:20834979-20987550)
GRCh37/hg19 19p13.2(chr19:8213468-8227432)
GRCh37/hg19 1q42.13(chr1:228297613-228703236)
GRCh37/hg19 22q11.21(chr22:18844632-19008108)
GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met) rs1562569196
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter) rs766692577
NM_001077653.2(TBX20):c.527A>C (p.Asp176Ala) rs201782046
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu) rs760169368
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala) rs768542939
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly) rs1395007983
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro) rs1419095990
NM_005585.5(SMAD6):c.794del (p.His265fs) rs1567092071

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