ClinVar Miner

List of variants reported as likely pathogenic for Hyper-IgM syndrome type 2 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)	rs1260264247	0.00002
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)	rs2136431608
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu)	rs2136433359

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