ClinVar Miner

List of variants reported as benign for X-linked recessive disease

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 127
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002351.5(SH2D1A):c.*863T>A rs7876065 0.84013
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_001167.4(XIAP):c.*5892T>G rs6648556 0.64022
NM_001167.4(XIAP):c.*4610C>T rs9856 0.60235
NM_001167.4(XIAP):c.*5241A>T rs5958343 0.59444
NM_002351.4(SH2D1A):c.-346C>T rs12164382 0.43694
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_001042750.2(STAG2):c.1417-39A>C rs2297651 0.22776
NM_001167.4(XIAP):c.*5506T>A rs201236246 0.21442
NM_001167.4(XIAP):c.*12A>G rs28382740 0.18976
NM_001167.4(XIAP):c.*6251C>T rs28382755 0.18915
NM_001167.4(XIAP):c.*2845C>T rs17330644 0.18875
NM_001167.4(XIAP):c.*2674A>C rs17330637 0.18783
NM_001167.4(XIAP):c.*4188T>C rs28382752 0.18781
NM_001167.4(XIAP):c.*4884C>T rs8371 0.18781
NM_001167.4(XIAP):c.*3383T>C rs17330651 0.18705
NM_001167.4(XIAP):c.*1676T>C rs17334746 0.18591
NM_001167.4(XIAP):c.*3642T>G rs28382747 0.17981
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_001167.4(XIAP):c.*4015A>G rs28382749 0.17684
NM_001167.4(XIAP):c.*4078C>A rs28382751 0.17448
NM_002351.5(SH2D1A):c.*1321A>G rs6649207 0.16862
NM_001167.4(XIAP):c.*803G>T rs28382742 0.16745
NM_001167.4(XIAP):c.*1393G>A rs28382744 0.16288
NM_001167.4(XIAP):c.*80G>C rs12838858 0.06523
NM_002351.5(SH2D1A):c.*212G>A rs5958475 0.06359
NM_001167.4(XIAP):c.*1958G>A rs41309540 0.04864
NM_001167.4(XIAP):c.*6422T>A rs5911725 0.04760
NM_001167.4(XIAP):c.*5069A>T rs5956584 0.04730
NM_002351.5(SH2D1A):c.*866A>G rs767771720 0.02353
NM_001167.4(XIAP):c.*3611C>T rs28382746 0.01629
NM_001167.4(XIAP):c.*5368C>T rs138392322 0.01491
NM_001167.4(XIAP):c.*5756C>T rs149254603 0.01472
NM_001167.4(XIAP):c.*4658C>T rs28382753 0.01131
NM_000240.4(MAOA):c.306+16C>A rs148788403 0.01100
NM_001167.4(XIAP):c.*6357G>A rs41312771 0.00988
NM_002351.5(SH2D1A):c.*1100C>A rs141513491 0.00923
NM_002351.4(SH2D1A):c.-318G>C rs146024883 0.00649
NM_001167.4(XIAP):c.*4889T>C rs185939201 0.00412
NM_000240.4(MAOA):c.1374+19G>A rs200078877 0.00388
NM_001167.4(XIAP):c.*6549C>T rs193060081 0.00342
NM_001167.4(XIAP):c.*482G>A rs144625027 0.00303
NM_000240.4(MAOA):c.825G>A (p.Pro275=) rs138703731 0.00238
NM_002351.4(SH2D1A):c.-247G>A rs190166840 0.00231
NM_000240.4(MAOA):c.515G>A (p.Arg172Gln) rs58524323 0.00220
NM_001167.4(XIAP):c.*5796C>T rs745822519 0.00191
NM_001167.4(XIAP):c.*3040G>A rs187400208 0.00188
NM_000240.4(MAOA):c.1165-13C>T rs184965368 0.00173
NM_001167.4(XIAP):c.*3572A>G rs185763794 0.00137
NM_001167.4(XIAP):c.*5505G>A rs28745607 0.00134
NM_001167.4(XIAP):c.*4092G>A rs773227715 0.00125
NM_001167.4(XIAP):c.*2622G>A rs778277646 0.00105
NM_001167.4(XIAP):c.276T>C (p.Phe92=) rs45575532 0.00080
NM_001167.4(XIAP):c.*2729C>G rs745491539 0.00068
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala) rs138783302 0.00068
NM_002351.5(SH2D1A):c.-74T>A rs142160401 0.00059
NM_001167.4(XIAP):c.*4024C>T rs28382750 0.00050
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_001167.4(XIAP):c.*4380G>A rs181285458 0.00038
NM_001167.4(XIAP):c.309G>A (p.Thr103=) rs140230812 0.00034
NM_002351.5(SH2D1A):c.*1689C>A rs186082107 0.00031
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
NM_001167.4(XIAP):c.*2682T>G rs191855689 0.00030
NM_001167.4(XIAP):c.*5331G>A rs777622382 0.00029
NM_001167.4(XIAP):c.*3707T>G rs766102484 0.00024
NM_001167.4(XIAP):c.23G>A (p.Gly8Glu) rs140889955 0.00024
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg) rs1800466 0.00022
NM_001167.4(XIAP):c.455C>G (p.Thr152Ser) rs150317928 0.00020
NM_001167.4(XIAP):c.*5140C>T rs762047770 0.00014
NM_001167.4(XIAP):c.1056+19A>T rs769758486 0.00011
NM_001167.4(XIAP):c.1230G>A (p.Leu410=) rs761489362 0.00010
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_001167.4(XIAP):c.499T>C (p.Leu167=) rs374298061 0.00009
NM_002351.5(SH2D1A):c.138-19G>A rs370365609 0.00009
NM_001167.4(XIAP):c.1096A>G (p.Ile366Val) rs766720607 0.00008
NM_001167.4(XIAP):c.146G>A (p.Arg49Gln) rs770122195 0.00008
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly) rs182340753 0.00007
NM_001167.4(XIAP):c.1100-19T>G rs28382736 0.00006
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly) rs200273554 0.00006
NM_001167.4(XIAP):c.296A>G (p.Glu99Gly) rs769904534 0.00006
NM_001167.4(XIAP):c.*5295A>T rs755335432 0.00005
NM_001167.4(XIAP):c.*5870G>T rs187282700 0.00005
NM_001167.4(XIAP):c.115G>T (p.Gly39Cys) rs775237858 0.00005
NM_001167.4(XIAP):c.1194G>T (p.Gln398His) rs776377233 0.00005
NM_001167.4(XIAP):c.1057-7G>A rs753427928 0.00003
NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala) rs377097035 0.00003
NM_001167.4(XIAP):c.1196T>G (p.Ile399Arg) rs753415949 0.00003
NM_002351.5(SH2D1A):c.*257A>T rs556331824 0.00003
NM_001167.4(XIAP):c.*5010A>G rs770776017 0.00002
NM_001167.4(XIAP):c.1300+7A>G rs749438405 0.00002
NM_000240.4(MAOA):c.816G>A (p.Ala272=) rs751223564 0.00001
NM_001167.4(XIAP):c.*2944C>A rs776649984 0.00001
NM_001167.4(XIAP):c.*6566G>A rs770051891 0.00001
NM_001167.4(XIAP):c.1416A>G (p.Lys472=) rs777650841 0.00001
NM_001167.4(XIAP):c.308C>T (p.Thr103Met) rs749157868 0.00001
NM_001167.4(XIAP):c.915A>T (p.Gly305=) rs755919911 0.00001
NM_002351.5(SH2D1A):c.144C>T (p.His48=) rs765804146 0.00001
NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser) rs148554414 0.00001
NM_000240.4(MAOA):c.1165-18T>G
NM_000240.4(MAOA):c.1263-16C>G
NM_000240.4(MAOA):c.168+11_168+15del rs375984321
NM_000273.3(GPR143):c.767+10C>G rs3788938
NM_001167.4(XIAP):c.*1298G>C rs41312612
NM_001167.4(XIAP):c.*4149A>G rs770722290
NM_001167.4(XIAP):c.*579G>A rs758981602
NM_001167.4(XIAP):c.1042C>T (p.Leu348Phe)
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001167.4(XIAP):c.1056+13_1056+14del rs1491462505
NM_001167.4(XIAP):c.1099+20A>G rs751904914
NM_001167.4(XIAP):c.1100-8del
NM_001167.4(XIAP):c.1122T>C (p.Pro374=)
NM_001167.4(XIAP):c.1299A>G (p.Lys433=)
NM_001167.4(XIAP):c.134C>T (p.Ser45Leu)
NM_001167.4(XIAP):c.471C>T (p.Asn157=)
NM_001167.4(XIAP):c.532C>T (p.His178Tyr)
NM_001167.4(XIAP):c.807C>G (p.Ile269Met)
NM_001167.4(XIAP):c.878-5C>G rs367801081
NM_001167.4(XIAP):c.878-5C>T rs367801081
NM_002351.5(SH2D1A):c.201+20del
NM_002351.5(SH2D1A):c.347-32_347-28del rs200198093
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.84C>T (p.Ser28=)
NM_003975.4(SH2D2A):c.123+181C>T rs1800601
NM_020061.6(OPN1LW):c.511G>A (p.Val171Met) rs5986963
NM_020061.6(OPN1LW):c.513G>T (p.Val171=) rs5986964

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.