ClinVar Miner

List of variants studied for Hyper-IgM syndrome type 2 by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_020661.4(AICDA):c.441C>A (p.Cys147Ter) rs104894323 0.00001
NM_020661.4(AICDA):c.177_185del (p.Leu59_Leu62delinsPhe) rs387906329
NM_020661.4(AICDA):c.203G>A (p.Trp68Ter) rs104894325
NM_020661.4(AICDA):c.22_40del (p.Arg8fs) rs387906328
NM_020661.4(AICDA):c.238T>C (p.Trp80Arg) rs104894320
NM_020661.4(AICDA):c.317T>C (p.Leu106Pro) rs104894321
NM_020661.4(AICDA):c.415A>G (p.Met139Val) rs104894322
NM_020661.4(AICDA):c.452T>C (p.Phe151Ser) rs104894327
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp) rs104894324

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