ClinVar Miner

List of variants studied for blue rubber bleb nevus

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_053274.3(GLMN):c.761C>G (p.Pro254Arg) rs145762716 0.00031
NM_000459.5(TEK):c.2690A>C (p.Tyr897Ser) rs80338909
NM_053274.3(GLMN):c.1630G>T (p.Glu544Ter) rs1557497881

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