ClinVar Miner

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

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala) rs201210527 0.00138
NM_020661.4(AICDA):c.427+4C>T rs201180477 0.00130
NM_020661.4(AICDA):c.48A>G (p.Lys16=) rs186739900 0.00117
NM_020661.4(AICDA):c.379C>A (p.Arg127=) rs141451637 0.00038
NM_020661.4(AICDA):c.157-18T>C rs200864445 0.00029
NM_020661.4(AICDA):c.189C>G (p.Arg63=) rs376176415 0.00028
NM_020661.4(AICDA):c.150C>A (p.Arg50=) rs376807304 0.00021
NM_020661.4(AICDA):c.456A>G (p.Val152=) rs1263897145 0.00010
NM_020661.4(AICDA):c.427+18G>A rs377743394 0.00008
NM_020661.4(AICDA):c.8+20G>A rs201036091 0.00007
NM_020661.4(AICDA):c.576A>C (p.Ala192=) rs768358556 0.00004
NM_020661.4(AICDA):c.195C>T (p.Ile65=) rs371803016 0.00002
NM_020661.4(AICDA):c.336C>T (p.Arg112=) rs371372384 0.00002
NM_020661.4(AICDA):c.376C>T (p.Leu126=) rs999930122 0.00002
NM_020661.4(AICDA):c.156+11A>C rs991275648 0.00001
NM_020661.4(AICDA):c.156+15C>T rs773928055 0.00001
NM_020661.4(AICDA):c.15G>A (p.Leu5=) rs1484825115 0.00001
NM_020661.4(AICDA):c.276A>G (p.Arg92=) rs748622128 0.00001
NM_020661.4(AICDA):c.468A>G (p.Glu156=) rs772651352 0.00001
NM_020661.4(AICDA):c.93C>T (p.Tyr31=) rs777729620 0.00001
NM_020661.4(AICDA):c.135C>T (p.Asp45=)
NM_020661.4(AICDA):c.13T>C (p.Leu5=) rs2136433390
NM_020661.4(AICDA):c.157-11T>C
NM_020661.4(AICDA):c.157-19G>A
NM_020661.4(AICDA):c.157-5T>C
NM_020661.4(AICDA):c.168C>T (p.His56=)
NM_020661.4(AICDA):c.175T>C (p.Leu59=)
NM_020661.4(AICDA):c.231C>T (p.Arg77=)
NM_020661.4(AICDA):c.258C>G (p.Pro86=)
NM_020661.4(AICDA):c.274C>A (p.Arg92=)
NM_020661.4(AICDA):c.27G>A (p.Arg9=)
NM_020661.4(AICDA):c.333G>A (p.Ala111=)
NM_020661.4(AICDA):c.348T>C (p.Cys116=)
NM_020661.4(AICDA):c.375G>T (p.Gly125=)
NM_020661.4(AICDA):c.399G>C (p.Gly133=) rs370650216
NM_020661.4(AICDA):c.402G>A (p.Val134=)
NM_020661.4(AICDA):c.405A>G (p.Gln135=) rs104894983
NM_020661.4(AICDA):c.427+11G>A
NM_020661.4(AICDA):c.427+19C>T
NM_020661.4(AICDA):c.427+8A>G rs200505101
NM_020661.4(AICDA):c.428-10_428-5del rs5796316
NM_020661.4(AICDA):c.428-18_428-17insCT rs1555130040
NM_020661.4(AICDA):c.428-18_428-17insCTT
NM_020661.4(AICDA):c.428-18dup rs397718057
NM_020661.4(AICDA):c.428-19C>T rs767408983
NM_020661.4(AICDA):c.428-5del rs5796316
NM_020661.4(AICDA):c.428-9_428-8insTC rs1941254624
NM_020661.4(AICDA):c.483C>T (p.Ala161=) rs2136431065
NM_020661.4(AICDA):c.544-4A>G
NM_020661.4(AICDA):c.549G>T (p.Leu183=) rs2136430592
NM_020661.4(AICDA):c.573C>T (p.Asp191=)
NM_020661.4(AICDA):c.75T>C (p.Arg25=)
NM_020661.4(AICDA):c.8+12G>T
NM_020661.4(AICDA):c.8+14C>T rs2136438654
NM_020661.4(AICDA):c.8+19C>T
NM_020661.4(AICDA):c.8+20G>C rs201036091
NM_020661.4(AICDA):c.81C>T (p.Thr27=)
NM_020661.4(AICDA):c.9-13_9-11del
NM_020661.4(AICDA):c.9-9C>T

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