ClinVar Miner

List of variants in gene XIAP studied for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP
GRCh37/hg19 Xq25(chrX:122970459-123034511)
NC_000023.11:g.(?_123885637)_(123886559_?)dup
NC_000023.11:g.(?_123885637)_(123888738_?)del
NC_000023.11:g.(?_123885637)_(123892793_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)dup
NC_000023.11:g.(?_123888599)_(123888738_?)dup
NC_000023.11:g.(?_123891218)_(123892793_?)del
NM_001167.3(XIAP):c.*1298G>C rs41312612
NM_001167.3(XIAP):c.*1393G>A rs28382744
NM_001167.3(XIAP):c.*1676T>C rs17334746
NM_001167.3(XIAP):c.*1940T>C rs755490620
NM_001167.3(XIAP):c.*1958G>A rs41309540
NM_001167.3(XIAP):c.*2401C>T rs771727226
NM_001167.3(XIAP):c.*2521A>G rs746553843
NM_001167.3(XIAP):c.*253C>T rs1057515749
NM_001167.3(XIAP):c.*2622G>A rs778277646
NM_001167.3(XIAP):c.*2674A>C rs17330637
NM_001167.3(XIAP):c.*2682T>G rs191855689
NM_001167.3(XIAP):c.*2729C>G rs745491539
NM_001167.3(XIAP):c.*3201A>G rs1057515752
NM_001167.3(XIAP):c.*3205T>C rs777738703
NM_001167.3(XIAP):c.*3383T>C rs17330651
NM_001167.3(XIAP):c.*3573G>A rs1037858715
NM_001167.3(XIAP):c.*3611C>T rs28382746
NM_001167.3(XIAP):c.*3642T>G rs28382747
NM_001167.3(XIAP):c.*3707T>G rs766102484
NM_001167.3(XIAP):c.*3997A>G rs1057515755
NM_001167.3(XIAP):c.*4015A>G rs28382749
NM_001167.3(XIAP):c.*4024C>T rs28382750
NM_001167.3(XIAP):c.*4078C>A rs28382751
NM_001167.3(XIAP):c.*4092G>A rs773227715
NM_001167.3(XIAP):c.*4188T>C rs28382752
NM_001167.3(XIAP):c.*4380G>A rs181285458
NM_001167.3(XIAP):c.*4610C>T rs9856
NM_001167.3(XIAP):c.*482G>A rs144625027
NM_001167.3(XIAP):c.*4884C>T rs8371
NM_001167.3(XIAP):c.*4889T>C rs185939201
NM_001167.3(XIAP):c.*5069A>T rs5956584
NM_001167.3(XIAP):c.*5241A>T rs5958343
NM_001167.3(XIAP):c.*5295A>T rs755335432
NM_001167.3(XIAP):c.*5368C>T rs138392322
NM_001167.3(XIAP):c.*5506T>A rs201236246
NM_001167.3(XIAP):c.*5756C>T rs149254603
NM_001167.3(XIAP):c.*5796C>T rs745822519
NM_001167.3(XIAP):c.*579G>A rs758981602
NM_001167.3(XIAP):c.*5892T>G rs6648556
NM_001167.3(XIAP):c.*6211C>T rs1022688672
NM_001167.3(XIAP):c.*6216G>A rs1057515760
NM_001167.3(XIAP):c.*6220C>T rs370656891
NM_001167.3(XIAP):c.*6221G>A rs757596272
NM_001167.3(XIAP):c.*6251C>T rs28382755
NM_001167.3(XIAP):c.*6357G>A rs41312771
NM_001167.3(XIAP):c.*6422T>A rs5911725
NM_001167.3(XIAP):c.*6549C>T rs193060081
NM_001167.3(XIAP):c.*803G>T rs28382742
NM_001167.3(XIAP):c.*80G>C rs12838858
NM_001167.3(XIAP):c.*870G>C rs185823003
NM_001167.3(XIAP):c.1021_1022del (p.Asn341fs) rs1556406033
NM_001167.3(XIAP):c.108del (p.Pro37fs) rs1556404455
NM_001167.3(XIAP):c.1100A>G (p.Asp367Gly) rs200273554
NM_001167.3(XIAP):c.1141C>T (p.Arg381Ter) rs1556408009
NM_001167.3(XIAP):c.115G>T (p.Gly39Cys) rs775237858
NM_001167.3(XIAP):c.1408A>T (p.Thr470Ser) rs143165174
NM_001167.3(XIAP):c.1458del (p.Val487fs) rs1602562990
NM_001167.3(XIAP):c.171A>G (p.Glu57=) rs1556404487
NM_001167.3(XIAP):c.276T>C (p.Phe92=) rs45575532
NM_001167.3(XIAP):c.292del (p.Glu99fs) rs1556404534
NM_001167.3(XIAP):c.309G>A (p.Thr103=) rs140230812
NM_001167.3(XIAP):c.352G>T (p.Glu118Ter) rs104894764
NM_001167.3(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001167.3(XIAP):c.435G>T (p.Gln145His) rs759909620
NM_001167.3(XIAP):c.455C>G (p.Thr152Ser) rs150317928
NM_001167.3(XIAP):c.562G>A (p.Gly188Arg) rs1602544454
NM_001167.3(XIAP):c.566T>C (p.Leu189Pro) rs1569477871
NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr) rs387907301
NM_001167.3(XIAP):c.609dup (p.Gly204fs) rs1602544507
NM_001167.3(XIAP):c.651del (p.Trp217fs) rs1556404673
NM_001167.3(XIAP):c.664C>T (p.Arg222Ter) rs1556404684
NM_001167.3(XIAP):c.672dup (p.Pro225fs) rs1556404697
NM_001167.3(XIAP):c.683T>G (p.Phe228Cys) rs140973844
NM_001167.3(XIAP):c.688G>A (p.Val230Ile) rs144884904
NM_001167.3(XIAP):c.712C>T (p.Arg238Ter) rs111978474
NM_001167.3(XIAP):c.73G>C (p.Glu25Gln) rs781204574
NM_001167.3(XIAP):c.769C>G (p.Pro257Ala) rs138783302
NM_001167.3(XIAP):c.844G>A (p.Glu282Lys) rs777303823
NM_001167.3(XIAP):c.878-5C>T rs367801081
NM_001167.3(XIAP):c.933G>A (p.Lys311=) rs749597959
NM_001167.3(XIAP):c.955C>T (p.Gln319Ter) rs1602546782
NM_001167.3(XIAP):c.962C>G (p.Ala321Gly) rs182340753
NM_001167.3(XIAP):c.978-10_978-4del rs1602549230
NM_001167.3(XIAP):c.978-9A>G rs1602549234
NM_001167.3(XIAP):c.978G>A (p.Gly326=) rs376282989
NM_001167.4(XIAP):c.*12A>G rs28382740
NM_001167.4(XIAP):c.*1481C>T
NM_001167.4(XIAP):c.*1705A>G
NM_001167.4(XIAP):c.*1869G>A
NM_001167.4(XIAP):c.*1904G>A
NM_001167.4(XIAP):c.*1950C>T
NM_001167.4(XIAP):c.*2488C>T
NM_001167.4(XIAP):c.*3408G>T
NM_001167.4(XIAP):c.*3544G>A
NM_001167.4(XIAP):c.*3547C>G
NM_001167.4(XIAP):c.*3572A>G
NM_001167.4(XIAP):c.*3589A>C
NM_001167.4(XIAP):c.*3673C>T
NM_001167.4(XIAP):c.*3845A>G
NM_001167.4(XIAP):c.*4149A>G
NM_001167.4(XIAP):c.*4336T>G
NM_001167.4(XIAP):c.*4658C>T
NM_001167.4(XIAP):c.*4691G>A
NM_001167.4(XIAP):c.*5010A>G
NM_001167.4(XIAP):c.*5140C>T
NM_001167.4(XIAP):c.*5331G>A
NM_001167.4(XIAP):c.*5505G>A
NM_001167.4(XIAP):c.*5870G>T
NM_001167.4(XIAP):c.*5986G>A
NM_001167.4(XIAP):c.*6009C>T
NM_001167.4(XIAP):c.*6010G>A
NM_001167.4(XIAP):c.*6256T>C
NM_001167.4(XIAP):c.*6566G>A
NM_001167.4(XIAP):c.*866A>G
NM_001167.4(XIAP):c.*93T>G
NM_001167.4(XIAP):c.-142G>C
NM_001167.4(XIAP):c.1045_1047GAG[1] (p.Glu350del) rs199683465
NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys)
NM_001167.4(XIAP):c.1058T>C (p.Val353Ala)
NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn)
NM_001167.4(XIAP):c.1237G>A (p.Asp413Asn)
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583
NM_001167.4(XIAP):c.1317G>C (p.Glu439Asp)
NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys)
NM_001167.4(XIAP):c.210_213AGAT[3] (p.Trp73Ter)
NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys)
NM_001167.4(XIAP):c.421_422del (p.Leu141fs)
NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys)
NM_001167.4(XIAP):c.632A>G (p.Glu211Gly)
NM_001167.4(XIAP):c.838A>C (p.Asn280His)
NM_001167.4(XIAP):c.840C>G (p.Asn280Lys)
NM_001167.4(XIAP):c.844G>C (p.Glu282Gln)
NM_001167.4(XIAP):c.919C>A (p.Leu307Ile)
XIAP, 2606-BP DEL

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