ClinVar Miner

List of variants reported as benign for X-linked recessive disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NC_000023.11:g.124346297C>T rs12164382 0.43694
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_000240.4(MAOA):c.306+16C>A rs148788403 0.01100
NM_000240.4(MAOA):c.1374+19G>A rs200078877 0.00388
NM_000240.4(MAOA):c.825G>A (p.Pro275=) rs138703731 0.00238
NM_000240.4(MAOA):c.515G>A (p.Arg172Gln) rs58524323 0.00220
NM_000240.4(MAOA):c.1165-13C>T rs184965368 0.00173
NM_001167.4(XIAP):c.276T>C (p.Phe92=) rs45575532 0.00080
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala) rs138783302 0.00068
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_001167.4(XIAP):c.309G>A (p.Thr103=) rs140230812 0.00034
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
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.1056+19A>T rs769758486 0.00011
NM_001167.4(XIAP):c.1230G>A (p.Leu410=) rs761489362 0.00010
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.115G>T (p.Gly39Cys) rs775237858 0.00005
NM_001167.4(XIAP):c.1194G>T (p.Gln398His) rs776377233 0.00005
NM_001167.4(XIAP):c.933G>A (p.Lys311=) rs749597959 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.225A>G (p.Arg75=) rs371553659 0.00003
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.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_001167.4(XIAP):c.1027C>A (p.His343Asn)
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_001167.4(XIAP):c.934C>T (p.Pro312Ser)
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=)

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