ClinVar Miner

List of variants in gene SH2D1A reported as benign for X-linked lymphoproliferative disease due to SH2D1A deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002351.5(SH2D1A):c.*863T>A rs7876065 0.84013
NM_002351.4(SH2D1A):c.-346C>T rs12164382 0.43694
NM_002351.5(SH2D1A):c.*1321A>G rs6649207 0.16862
NM_002351.5(SH2D1A):c.*212G>A rs5958475 0.06359
NM_002351.5(SH2D1A):c.*866A>G rs767771720 0.02353
NM_002351.5(SH2D1A):c.*1100C>A rs141513491 0.00923
NM_002351.4(SH2D1A):c.-318G>C rs146024883 0.00649
NM_002351.4(SH2D1A):c.-247G>A rs190166840 0.00231
NM_002351.5(SH2D1A):c.-74T>A rs142160401 0.00059
NM_002351.5(SH2D1A):c.*1689C>A rs186082107 0.00031
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
NM_002351.5(SH2D1A):c.138-19G>A rs370365609 0.00009
NM_002351.5(SH2D1A):c.*257A>T rs556331824 0.00003
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_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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