ClinVar Miner

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

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter) rs765548101
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter) rs770780171
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169

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