ClinVar Miner

List of variants reported as likely pathogenic for cardiovascular organ benign neoplasm by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_007217.4(PDCD10):c.474+5G>A rs1553759139
NM_194456.1(KRIT1):c.990-1G>A rs1554518790

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