List of variants studied for Agammaglobulinemia 6, autosomal recessive by Invitae

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		ClinVar version:

Total variants: 146

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HGVS	dbSNP	gnomAD frequency
NM_000626.4(CD79B):c.366T>C (p.Cys122=)	rs2070776	0.64196
NM_000626.4(CD79B):c.312C>T (p.Leu104=)	rs116625909	0.00851
NM_000626.4(CD79B):c.118+12C>T	rs150429226	0.00242
NM_000626.4(CD79B):c.67+10C>A	rs112931479	0.00106
NM_000626.4(CD79B):c.431-4G>A	rs201051431	0.00059
NM_000626.4(CD79B):c.549+16G>A	rs200501913	0.00037
NM_000626.4(CD79B):c.338G>A (p.Arg113Gln)	rs147236129	0.00022
NM_000626.4(CD79B):c.468G>A (p.Thr156=)	rs114813228	0.00019
NM_000626.4(CD79B):c.592-6C>G	rs372665115	0.00019
NM_000626.4(CD79B):c.550-17T>C	rs199521114	0.00018
NM_000626.4(CD79B):c.118+19C>T	rs200473170	0.00016
NM_000626.4(CD79B):c.250G>A (p.Glu84Lys)	rs373082402	0.00015
NM_000626.4(CD79B):c.48G>A (p.Ala16=)	rs758062682	0.00015
NM_000626.4(CD79B):c.286A>G (p.Met96Val)	rs201757742	0.00014
NM_000626.4(CD79B):c.645A>G (p.Thr215=)	rs375009834	0.00014
NM_000626.4(CD79B):c.497C>T (p.Thr166Met)	rs147194821	0.00013
NM_000626.4(CD79B):c.303C>T (p.Asn101=)	rs115494685	0.00012
NM_000626.4(CD79B):c.550-8G>A	rs202115514	0.00012
NM_000626.4(CD79B):c.549+14G>A	rs371496789	0.00010
NM_000626.4(CD79B):c.498G>A (p.Thr166=)	rs141754572	0.00009
NM_000626.4(CD79B):c.68-9A>G	rs374896622	0.00009
NM_000626.4(CD79B):c.179C>T (p.Thr60Met)	rs144755516	0.00008
NM_000626.4(CD79B):c.648G>A (p.Gly216=)	rs138535790	0.00008
NM_000626.4(CD79B):c.118+13G>A	rs543290517	0.00004
NM_000626.4(CD79B):c.329A>G (p.Gln110Arg)	rs139707827	0.00004
NM_000626.4(CD79B):c.431-3C>T	rs764645960	0.00004
NM_000626.4(CD79B):c.646G>C (p.Gly216Arg)	rs777266345	0.00004
NM_000626.4(CD79B):c.422G>A (p.Arg141Gln)	rs777737578	0.00003
NM_000626.4(CD79B):c.218A>C (p.Asn73Thr)	rs200126941	0.00002
NM_000626.4(CD79B):c.255T>C (p.Asn85=)	rs762226211	0.00002
NM_000626.4(CD79B):c.261G>A (p.Gln87=)	rs191761650	0.00002
NM_000626.4(CD79B):c.272T>C (p.Leu91Pro)	rs779639084	0.00002
NM_000626.4(CD79B):c.389C>T (p.Ser130Leu)	rs1389559363	0.00002
NM_000626.4(CD79B):c.408C>T (p.Cys136=)	rs749042260	0.00002
NM_000626.4(CD79B):c.430+10A>C	rs758503702	0.00002
NM_000626.4(CD79B):c.47C>T (p.Ala16Val)	rs114330958	0.00002
NM_000626.4(CD79B):c.636G>A (p.Thr212=)	rs534051167	0.00002
NM_000626.4(CD79B):c.106C>T (p.Arg36Trp)	rs201705534	0.00001
NM_000626.4(CD79B):c.131C>T (p.Ser44Leu)	rs868652684	0.00001
NM_000626.4(CD79B):c.14C>T (p.Ala5Val)	rs748240443	0.00001
NM_000626.4(CD79B):c.15G>A (p.Ala5=)	rs199930415	0.00001
NM_000626.4(CD79B):c.213C>T (p.Ser71=)	rs756340178	0.00001
NM_000626.4(CD79B):c.351T>C (p.Asn117=)	rs760407063	0.00001
NM_000626.4(CD79B):c.379A>G (p.Asn127Asp)	rs370893971	0.00001
NM_000626.4(CD79B):c.390G>A (p.Ser130=)	rs1374878972	0.00001
NM_000626.4(CD79B):c.405C>T (p.Gly135=)	rs11555058	0.00001
NM_000626.4(CD79B):c.431-19C>T	rs1908012295	0.00001
NM_000626.4(CD79B):c.431-5C>T	rs554783299	0.00001
NM_000626.4(CD79B):c.522C>T (p.Ile174=)	rs115099162	0.00001
NM_000626.4(CD79B):c.549+11G>A	rs772302337	0.00001
NM_000626.4(CD79B):c.591G>A (p.Glu197=)	rs199859520	0.00001
NM_000626.4(CD79B):c.635C>T (p.Thr212Met)	rs149266494	0.00001
NM_000626.4(CD79B):c.67+18A>G	rs773415844	0.00001
NM_000626.4(CD79B):c.100C>A (p.Arg34=)	rs1350196178
NM_000626.4(CD79B):c.102G>A (p.Arg34=)	rs549278202
NM_000626.4(CD79B):c.102G>C (p.Arg34=)	rs549278202
NM_000626.4(CD79B):c.118+15C>T
NM_000626.4(CD79B):c.119-7C>T	rs2144758434
NM_000626.4(CD79B):c.120T>A (p.Gly40=)	rs1598400558
NM_000626.4(CD79B):c.124G>A (p.Ala42Thr)
NM_000626.4(CD79B):c.132G>A (p.Ser44=)
NM_000626.4(CD79B):c.144G>A (p.Gln48=)
NM_000626.4(CD79B):c.152G>A (p.Arg51His)	rs1401272877
NM_000626.4(CD79B):c.160G>A (p.Ala54Thr)
NM_000626.4(CD79B):c.162C>T (p.Ala54=)
NM_000626.4(CD79B):c.165G>A (p.Arg55=)	rs747800058
NM_000626.4(CD79B):c.170G>C (p.Arg57Pro)
NM_000626.4(CD79B):c.205A>G (p.Ser69Gly)	rs2144758191
NM_000626.4(CD79B):c.208G>A (p.Ala70Thr)	rs912718113
NM_000626.4(CD79B):c.213C>G (p.Ser71=)	rs756340178
NM_000626.4(CD79B):c.217A>G (p.Asn73Asp)
NM_000626.4(CD79B):c.225C>T (p.Ser75=)
NM_000626.4(CD79B):c.245T>G (p.Met82Arg)
NM_000626.4(CD79B):c.24T>C (p.Pro8=)
NM_000626.4(CD79B):c.256C>A (p.Pro86Thr)
NM_000626.4(CD79B):c.279G>A (p.Lys93=)
NM_000626.4(CD79B):c.282C>T (p.Gly94=)	rs2144757951
NM_000626.4(CD79B):c.294G>A (p.Glu98=)
NM_000626.4(CD79B):c.299A>G (p.Gln100Arg)
NM_000626.4(CD79B):c.304G>A (p.Glu102Lys)	rs1908036921
NM_000626.4(CD79B):c.323C>T (p.Thr108Ile)	rs763307022
NM_000626.4(CD79B):c.341T>G (p.Phe114Cys)	rs1908032776
NM_000626.4(CD79B):c.354C>T (p.Gly118=)	rs2144757727
NM_000626.4(CD79B):c.362T>G (p.Phe121Cys)
NM_000626.4(CD79B):c.363C>T (p.Phe121=)
NM_000626.4(CD79B):c.364_366del (p.Cys122del)
NM_000626.4(CD79B):c.372G>A (p.Gln124=)	rs745434907
NM_000626.4(CD79B):c.381C>T (p.Asn127=)	rs1555598971
NM_000626.4(CD79B):c.387C>T (p.Thr129=)
NM_000626.4(CD79B):c.429G>A (p.Met143Ile)
NM_000626.4(CD79B):c.430+8C>A	rs780195935
NM_000626.4(CD79B):c.431-13C>T
NM_000626.4(CD79B):c.431-15C>A
NM_000626.4(CD79B):c.431-18C>G
NM_000626.4(CD79B):c.431-18C>T
NM_000626.4(CD79B):c.431-20C>A
NM_000626.4(CD79B):c.431-20C>T
NM_000626.4(CD79B):c.431-8_431-7delinsTG
NM_000626.4(CD79B):c.462G>A (p.Arg154=)
NM_000626.4(CD79B):c.467C>T (p.Thr156Met)	rs2144756917
NM_000626.4(CD79B):c.480T>A (p.Gly160=)
NM_000626.4(CD79B):c.48G>C (p.Ala16=)	rs758062682
NM_000626.4(CD79B):c.501G>A (p.Leu167=)
NM_000626.4(CD79B):c.523G>A (p.Val175Met)
NM_000626.4(CD79B):c.534C>T (p.Phe178=)
NM_000626.4(CD79B):c.542T>A (p.Leu181Gln)	rs1908002118
NM_000626.4(CD79B):c.547A>G (p.Lys183Glu)	rs1908001684
NM_000626.4(CD79B):c.549+11G>T	rs772302337
NM_000626.4(CD79B):c.549+11del	rs750893342
NM_000626.4(CD79B):c.549+13C>T
NM_000626.4(CD79B):c.549+17G>T
NM_000626.4(CD79B):c.549+20A>G
NM_000626.4(CD79B):c.549+9G>A
NM_000626.4(CD79B):c.549+9G>C
NM_000626.4(CD79B):c.550-19C>A
NM_000626.4(CD79B):c.550-6C>T	rs748612433
NM_000626.4(CD79B):c.552T>A (p.Asp184Glu)	rs1598399769
NM_000626.4(CD79B):c.557G>A (p.Ser186Asn)	rs1290989439
NM_000626.4(CD79B):c.563_564delinsGG (p.Ala188Gly)	rs2144755949
NM_000626.4(CD79B):c.567C>T (p.Gly189=)	rs143511067
NM_000626.4(CD79B):c.571G>C (p.Glu191Gln)
NM_000626.4(CD79B):c.584C>G (p.Thr195Ser)
NM_000626.4(CD79B):c.585C>G (p.Thr195=)	rs1907978089
NM_000626.4(CD79B):c.591+13G>A	rs371044426
NM_000626.4(CD79B):c.591+16G>A
NM_000626.4(CD79B):c.591+4A>T	rs2144755829
NM_000626.4(CD79B):c.621T>C (p.Tyr207=)
NM_000626.4(CD79B):c.641G>A (p.Arg214Gln)
NM_000626.4(CD79B):c.664G>A (p.Val222Ile)	rs144588938
NM_000626.4(CD79B):c.669T>C (p.Gly223=)
NM_000626.4(CD79B):c.67+14G>A
NM_000626.4(CD79B):c.67+16C>T
NM_000626.4(CD79B):c.67+17G>C	rs373437028
NM_000626.4(CD79B):c.67+19G>A
NM_000626.4(CD79B):c.67+3A>G	rs1335363614
NM_000626.4(CD79B):c.67+9C>A	rs2144762223
NM_000626.4(CD79B):c.672G>A (p.Glu224=)
NM_000626.4(CD79B):c.678A>C (p.Pro226=)	rs2144755338
NM_000626.4(CD79B):c.679G>A (p.Gly227Ser)	rs2144755333
NM_000626.4(CD79B):c.68-5A>G	rs943927329
NM_000626.4(CD79B):c.68-7C>T
NM_000626.4(CD79B):c.75A>C (p.Pro25=)	rs2144760436
NM_000626.4(CD79B):c.92C>G (p.Ser31Trp)	rs750544228
NM_000626.4(CD79B):c.93G>A (p.Ser31=)
NM_000626.4(CD79B):c.93GGA[1] (p.Glu32del)	rs780720849
NM_000626.4(CD79B):c.94G>C (p.Glu32Gln)

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