ClinVar Miner

List of variants studied for inflammatory bowel disease by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.1234C>T (p.Arg412Cys) rs375201229 0.00004
NM_000628.5(IL10RB):c.787C>G (p.Pro263Ala)
NM_001184900.3(CARD8):c.853G>T (p.Glu285Ter) rs2146193028

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