ClinVar Miner

List of variants studied for Hyper-IgM syndrome type 2 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_020661.4(AICDA):c.259T>C (p.Cys87Arg) rs762590894 0.00001
NM_020661.4(AICDA):c.295C>T (p.Arg99Ter) rs757606065 0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_020661.4(AICDA):c.169G>A (p.Val57Met) rs786205474
NM_020661.4(AICDA):c.332C>A (p.Ala111Glu)

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