ClinVar Miner

List of variants studied for benign neoplasm by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter) rs1372506599 0.00001
NM_002382.5(MAX):c.55C>T (p.Gln19Ter) rs2139963878
NM_003002.4(SDHD):c.52+2T>G rs587776644
NM_017849.4(TMEM127):c.410-2A>C rs121908826
Single allele

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