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

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		ClinVar version:

Total variants: 77

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HGVS	dbSNP	gnomAD frequency
NM_020661.4(AICDA):c.457G>C (p.Glu153Gln)	rs1206955819	0.00006
NM_020661.4(AICDA):c.22C>T (p.Arg8Trp)	rs763540826	0.00004
NM_020661.4(AICDA):c.23G>A (p.Arg8Gln)	rs773903008	0.00003
NM_020661.4(AICDA):c.418A>G (p.Thr140Ala)	rs375684823	0.00003
NM_020661.4(AICDA):c.408A>G (p.Ile136Met)	rs887002786	0.00002
NM_020661.4(AICDA):c.106C>T (p.Arg36Cys)	rs200228627	0.00001
NM_020661.4(AICDA):c.148C>T (p.Arg50Cys)	rs370700027	0.00001
NM_020661.4(AICDA):c.190T>C (p.Tyr64His)	rs944982893	0.00001
NM_020661.4(AICDA):c.21C>A (p.Asn7Lys)	rs901889062	0.00001
NM_020661.4(AICDA):c.284C>T (p.Ala95Val)	rs780274954	0.00001
NM_020661.4(AICDA):c.322A>C (p.Ile108Leu)	rs368645130	0.00001
NM_020661.4(AICDA):c.329C>G (p.Thr110Ser)	rs762487797	0.00001
NM_020661.4(AICDA):c.355C>T (p.Arg119Cys)	rs760513969	0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu)	rs193922704	0.00001
NM_020661.4(AICDA):c.533G>C (p.Arg178Pro)	rs1174012304	0.00001
NM_020661.4(AICDA):c.82T>C (p.Tyr28His)	rs199697153	0.00001
NC_000012.11:g.(?_8765336)_(8765383_?)dup
NM_020661.4(AICDA):c.110_115del (p.Asp37_Ser38del)	rs1181609421
NM_020661.4(AICDA):c.127T>A (p.Ser43Thr)	rs1941294885
NM_020661.4(AICDA):c.128C>T (p.Ser43Leu)
NM_020661.4(AICDA):c.133G>A (p.Asp45Asn)
NM_020661.4(AICDA):c.160G>C (p.Gly54Arg)	rs1565509771
NM_020661.4(AICDA):c.178C>T (p.Leu60Phe)
NM_020661.4(AICDA):c.181T>C (p.Phe61Leu)
NM_020661.4(AICDA):c.197C>T (p.Ser66Leu)	rs1941270570
NM_020661.4(AICDA):c.201C>A (p.Asp67Glu)
NM_020661.4(AICDA):c.208C>G (p.Leu70Val)	rs929345572
NM_020661.4(AICDA):c.220C>T (p.Arg74Cys)
NM_020661.4(AICDA):c.230G>A (p.Arg77His)	rs1941269563
NM_020661.4(AICDA):c.232G>C (p.Val78Leu)
NM_020661.4(AICDA):c.238T>C (p.Trp80Arg)	rs104894320
NM_020661.4(AICDA):c.257C>T (p.Pro86Leu)	rs2136431944
NM_020661.4(AICDA):c.259T>G (p.Cys87Gly)
NM_020661.4(AICDA):c.271G>A (p.Ala91Thr)
NM_020661.4(AICDA):c.278A>G (p.His93Arg)	rs1941268089
NM_020661.4(AICDA):c.283G>A (p.Ala95Thr)
NM_020661.4(AICDA):c.283_284delinsTT (p.Ala95Phe)	rs2136431862
NM_020661.4(AICDA):c.284C>G (p.Ala95Gly)
NM_020661.4(AICDA):c.289T>C (p.Phe97Leu)
NM_020661.4(AICDA):c.289T>G (p.Phe97Val)	rs1591744388
NM_020661.4(AICDA):c.305C>T (p.Pro102Leu)	rs1565509610
NM_020661.4(AICDA):c.329C>T (p.Thr110Ile)
NM_020661.4(AICDA):c.338T>C (p.Leu113Pro)	rs1268237441
NM_020661.4(AICDA):c.352G>A (p.Asp118Asn)
NM_020661.4(AICDA):c.353A>C (p.Asp118Ala)	rs1941266008
NM_020661.4(AICDA):c.356G>A (p.Arg119His)
NM_020661.4(AICDA):c.368C>T (p.Pro123Leu)	rs1941265632
NM_020661.4(AICDA):c.370G>A (p.Glu124Lys)
NM_020661.4(AICDA):c.379C>T (p.Arg127Trp)
NM_020661.4(AICDA):c.391C>T (p.Arg131Cys)	rs761363877
NM_020661.4(AICDA):c.398G>T (p.Gly133Val)
NM_020661.4(AICDA):c.400G>A (p.Val134Met)
NM_020661.4(AICDA):c.406A>G (p.Ile136Val)
NM_020661.4(AICDA):c.407T>C (p.Ile136Thr)
NM_020661.4(AICDA):c.422T>A (p.Phe141Tyr)
NM_020661.4(AICDA):c.427+6A>C	rs1318694006
NM_020661.4(AICDA):c.427G>T (p.Asp143Tyr)	rs1185119035
NM_020661.4(AICDA):c.428A>T (p.Asp143Val)	rs1185838920
NM_020661.4(AICDA):c.43T>C (p.Phe15Leu)	rs2136433362
NM_020661.4(AICDA):c.464_465inv (p.His155Arg)
NM_020661.4(AICDA):c.465C>A (p.His155Gln)
NM_020661.4(AICDA):c.470G>T (p.Arg157Ile)
NM_020661.4(AICDA):c.496C>T (p.His166Tyr)
NM_020661.4(AICDA):c.511C>G (p.Arg171Gly)
NM_020661.4(AICDA):c.511C>T (p.Arg171Cys)
NM_020661.4(AICDA):c.517T>G (p.Ser173Ala)
NM_020661.4(AICDA):c.544-3C>T	rs1941237276
NM_020661.4(AICDA):c.552T>A (p.Tyr184Ter)	rs1591743505
NM_020661.4(AICDA):c.554A>C (p.Glu185Ala)	rs1941236723
NM_020661.4(AICDA):c.557T>C (p.Val186Ala)	rs1227243694
NM_020661.4(AICDA):c.566T>G (p.Leu189Ter)
NM_020661.4(AICDA):c.568C>G (p.Arg190Gly)	rs769399833
NM_020661.4(AICDA):c.572A>T (p.Asp191Val)
NM_020661.4(AICDA):c.574G>A (p.Ala192Thr)	rs2136430559
NM_020661.4(AICDA):c.595T>A (p.Ter199Arg)
NM_020661.4(AICDA):c.73C>T (p.Arg25Cys)
NM_020661.4(AICDA):c.94G>A (p.Val32Ile)

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