ClinVar Miner

List of variants reported as pathogenic for Hyper-IgM syndrome type 2

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_020661.4(AICDA):c.416T>C (p.Met139Thr) rs200858797 0.00019
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_020661.4(AICDA):c.259T>C (p.Cys87Arg) rs762590894 0.00001
NM_020661.4(AICDA):c.334C>T (p.Arg112Cys) rs1057520542 0.00001
NM_020661.4(AICDA):c.441C>A (p.Cys147Ter) rs104894323 0.00001
NC_000012.11:g.(?_8756880)_(8765363_?)del
NC_000012.11:g.(?_8765336)_(8765363_?)del
NC_000012.12:g.(?_8456112)_(8612767_?)del
NC_000012.12:g.(?_8604264)_(8612787_?)del
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.295C>T (p.Arg99Ter)
NM_020661.4(AICDA):c.317T>C (p.Leu106Pro) rs104894321
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter) rs2136431608
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.568C>T (p.Arg190Ter) rs769399833
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp) rs104894324
NM_020661.4(AICDA):c.93C>A (p.Tyr31Ter)

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