ClinVar Miner

List of variants reported as uncertain significance for X-linked lymphoproliferative syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NC_000023.11:g.(?_123885637)_(123886559_?)dup
NC_000023.11:g.(?_123885637)_(123907201_?)dup
NM_001167.3(XIAP):c.171A>G (p.Glu57=) rs1556404487
NM_001167.3(XIAP):c.435G>T (p.Gln145His) rs759909620
NM_001167.3(XIAP):c.562G>A (p.Gly188Arg) rs1602544454
NM_001167.3(XIAP):c.683T>G (p.Phe228Cys) rs140973844
NM_001167.3(XIAP):c.844G>A (p.Glu282Lys) rs777303823
NM_001167.3(XIAP):c.978-10_978-4del rs1602549230
NM_001167.3(XIAP):c.978-9A>G rs1602549234
NM_001167.4(XIAP):c.1020C>G (p.Asn340Lys)
NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys)
NM_001167.4(XIAP):c.1058T>C (p.Val353Ala)
NM_001167.4(XIAP):c.1108A>G (p.Ile370Val)
NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn)
NM_001167.4(XIAP):c.1179G>A (p.Met393Ile)
NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys)
NM_001167.4(XIAP):c.227G>C (p.Gly76Ala)
NM_001167.4(XIAP):c.271A>G (p.Arg91Gly)
NM_001167.4(XIAP):c.272G>A (p.Arg91Lys)
NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys)
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)
NM_001167.4(XIAP):c.977+3A>G
NM_002351.4(SH2D1A):c.116G>T (p.Gly39Val) rs1556619338
NM_002351.5(SH2D1A):c.118G>A (p.Val40Met)
NM_002351.5(SH2D1A):c.129A>G (p.Leu43=)
NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr)
NM_002351.5(SH2D1A):c.219T>A (p.His73Gln)
NM_002351.5(SH2D1A):c.346+6A>T
NM_002351.5(SH2D1A):c.362C>T (p.Pro121Leu)
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser)
NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup)

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