ClinVar Miner

List of variants studied for intestinal neoplasm by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3036T>A (p.Asn1012Lys)
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser) rs63749919
NM_000249.4(MLH1):c.1040C>T (p.Thr347Ile)
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247

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