ClinVar Miner

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

Included ClinVar conditions (152):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter) rs2136117686
NM_001370259.2(MEN1):c.1344G>T (p.Glu448Asp)
NM_002382.5(MAX):c.55C>T (p.Gln19Ter) rs2139963878
NM_003002.4(SDHD):c.52+2T>G rs587776644
NM_004132.5(HABP2):c.1590C>T (p.Gly530=) rs2133792767
NM_017841.4(SDHAF2):c.479_482del (p.Tyr160fs)
NM_017849.4(TMEM127):c.410-2A>C rs121908826
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
Single allele

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