ClinVar Miner

List of variants studied for vascular neoplasm by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000081.4(LYST):c.11149_11151dup (p.Val3717_Ser3718insVal)
NM_000546.6(TP53):c.1133C>A (p.Ser378Tyr)
NM_000546.6(TP53):c.716del (p.Asn239fs) rs1060501197
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.994-1G>A rs587782272

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