ClinVar Miner

List of variants in gene SH2D1A reported as likely benign for X-linked lymphoproliferative syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_002351.5(SH2D1A):c.-74T>A rs142160401 0.00059
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
NM_002351.5(SH2D1A):c.292C>T (p.Leu98=) rs1012239614 0.00002
NM_002351.5(SH2D1A):c.102C>T (p.Ser34=) rs1484311033 0.00001
NM_002351.5(SH2D1A):c.129A>G (p.Leu43=) rs1569527113 0.00001
NM_002351.5(SH2D1A):c.346+6A>T rs746265444 0.00001
NM_002351.5(SH2D1A):c.96G>A (p.Arg32=) rs2059993707 0.00001
NM_002351.5(SH2D1A):c.120G>A (p.Val40=) rs1488638073
NM_002351.5(SH2D1A):c.123C>T (p.Tyr41=)
NM_002351.5(SH2D1A):c.129A>C (p.Leu43=)
NM_002351.5(SH2D1A):c.137+14G>A
NM_002351.5(SH2D1A):c.138-7T>C rs2522814855
NM_002351.5(SH2D1A):c.183A>C (p.Thr61=) rs1569527577
NM_002351.5(SH2D1A):c.201+12T>C rs1569527580
NM_002351.5(SH2D1A):c.202-10T>C rs2522818936
NM_002351.5(SH2D1A):c.202-17G>A rs2147534006
NM_002351.5(SH2D1A):c.202-5del rs767110636
NM_002351.5(SH2D1A):c.219T>C (p.His73=) rs954824608
NM_002351.5(SH2D1A):c.228T>C (p.Tyr76=) rs2147534039
NM_002351.5(SH2D1A):c.273T>C (p.Asp91=) rs775759946
NM_002351.5(SH2D1A):c.312G>A (p.Lys104=) rs1409956490
NM_002351.5(SH2D1A):c.330T>C (p.Ser110=) rs2060066337
NM_002351.5(SH2D1A):c.347-12A>G
NM_002351.5(SH2D1A):c.366T>C (p.Asp122=) rs2522820113
NM_002351.5(SH2D1A):c.373C>T (p.Leu125=) rs1230442586
NM_002351.5(SH2D1A):c.39G>A (p.Arg13=)
NM_002351.5(SH2D1A):c.45C>T (p.Thr15=) rs2059993470
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.57C>T (p.Leu19=)
NM_002351.5(SH2D1A):c.87T>C (p.Tyr29=) rs2522797348

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