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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
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.203G>A (p.Trp68Ter)	rs104894325
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.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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