ClinVar Miner

List of variants reported as pathogenic 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: 62
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HGVS dbSNP gnomAD frequency
NM_001167.4(XIAP):c.1048G>T (p.Glu350Ter) rs773573633 0.00001
NC_000023.10:g.(?_122318388)_(123505241_?)del
NC_000023.10:g.(?_123010866)_(123025086_?)del
NC_000023.10:g.(?_123025068)_(123041031_?)del
NC_000023.10:g.(?_123480147)_(123480649_?)del
NC_000023.10:g.(?_123480493)_(123505241_?)del
NC_000023.10:g.(?_123494030)_(123499653_?)del
NC_000023.10:g.(?_123499591)_(123499694_?)del
NC_000023.10:g.(?_123499591)_(123505241_?)del
NC_000023.10:g.(?_123504006)_(123505241_?)del
NC_000023.10:g.(?_43515570)_(43603780_?)del
NC_000023.10:g.(?_43515590)_(43817891_?)del
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.(?_123891218)_(123892793_?)del
NC_000023.11:g.(?_124346297)_(124371411_?)del
NM_000240.4(MAOA):c.1214del (p.Gly405fs) rs2147107556
NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)
NM_001167.4(XIAP):c.1012dup (p.Tyr338fs) rs2148096182
NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs) rs1556406033
NM_001167.4(XIAP):c.1087dup (p.Thr363fs)
NM_001167.4(XIAP):c.108del (p.Pro37fs) rs1556404455
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter) rs1556408009
NM_001167.4(XIAP):c.1315G>T (p.Glu439Ter) rs2148112149
NM_001167.4(XIAP):c.145C>T (p.Arg49Ter)
NM_001167.4(XIAP):c.214_217dup (p.Trp73Ter) rs2053346219
NM_001167.4(XIAP):c.218G>A (p.Trp73Ter)
NM_001167.4(XIAP):c.225_226insA (p.Gly76fs) rs2053346343
NM_001167.4(XIAP):c.345C>G (p.Tyr115Ter) rs761159697
NM_001167.4(XIAP):c.371del (p.Arg124fs)
NM_001167.4(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001167.4(XIAP):c.416_417del (p.Tyr139fs)
NM_001167.4(XIAP):c.421_422del (p.Leu141fs) rs2053348573
NM_001167.4(XIAP):c.446dup (p.Ser150fs) rs2053348979
NM_001167.4(XIAP):c.481del (p.Tyr161fs)
NM_001167.4(XIAP):c.568dup (p.Tyr190fs)
NM_001167.4(XIAP):c.595C>T (p.Gln199Ter) rs2053350325
NM_001167.4(XIAP):c.609TGG[1] (p.Gly205del) rs2148089962
NM_001167.4(XIAP):c.60del (p.Glu21fs) rs2148089318
NM_001167.4(XIAP):c.64G>T (p.Glu22Ter)
NM_001167.4(XIAP):c.664C>T (p.Arg222Ter) rs1556404684
NM_001167.4(XIAP):c.664_665insTGTC (p.Arg222fs)
NM_001167.4(XIAP):c.712C>T (p.Arg238Ter) rs111978474
NM_001167.4(XIAP):c.755dup (p.Asn252fs) rs2148090158
NM_001167.4(XIAP):c.764dup (p.Asn255fs)
NM_001167.4(XIAP):c.894_898del (p.Lys299fs) rs2148092759
NM_001167.4(XIAP):c.921_924del (p.Thr308fs) rs2148092792
NM_001167.4(XIAP):c.955C>T (p.Gln319Ter) rs1602546782
NM_001167.4(XIAP):c.978-2A>G rs2148096152
NM_001167.4(XIAP):c.990_991del (p.Leu331fs)
NM_002351.5(SH2D1A):c.126C>A (p.Cys42Ter)
NM_002351.5(SH2D1A):c.138-1G>A
NM_002351.5(SH2D1A):c.138-2A>G
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter) rs746035909
NM_002351.5(SH2D1A):c.201+1G>A
NM_002351.5(SH2D1A):c.201+2T>C rs2147531379
NM_002351.5(SH2D1A):c.245dup (p.Asn82fs) rs2147534047
NM_002351.5(SH2D1A):c.261dup (p.Gln88fs)
NM_002351.5(SH2D1A):c.295C>T (p.Gln99Ter)
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr) rs2147519353

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