ClinVar Miner

List of variants reported as likely benign for X-linked lymphoproliferative disease due to SH2D1A deficiency by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002351.5(SH2D1A):c.129A>G (p.Leu43=) rs1569527113 0.00001
NM_002351.5(SH2D1A):c.273T>C (p.Asp91=) rs775759946 0.00001
NM_002351.5(SH2D1A):c.346+6A>T rs746265444 0.00001
NM_002351.5(SH2D1A):c.373C>T (p.Leu125=) rs1230442586 0.00001
NM_002351.5(SH2D1A):c.120G>A (p.Val40=)
NM_002351.5(SH2D1A):c.138-7T>C
NM_002351.5(SH2D1A):c.183A>C (p.Thr61=) rs1569527577
NM_002351.5(SH2D1A):c.201+12T>C
NM_002351.5(SH2D1A):c.202-10T>C
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=)
NM_002351.5(SH2D1A):c.228T>C (p.Tyr76=) rs2147534039
NM_002351.5(SH2D1A):c.292C>T (p.Leu98=)
NM_002351.5(SH2D1A):c.312G>A (p.Lys104=)
NM_002351.5(SH2D1A):c.330T>C (p.Ser110=) rs2060066337
NM_002351.5(SH2D1A):c.366T>C (p.Asp122=)
NM_002351.5(SH2D1A):c.45C>T (p.Thr15=)
NM_002351.5(SH2D1A):c.87T>C (p.Tyr29=)
NM_002351.5(SH2D1A):c.96G>A (p.Arg32=)

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