ClinVar Miner

List of variants in gene LRRC8A studied for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
LRRC8A, 1-BP INS, 2681T, TRANSLOCATION 20
NM_019594.3(LRRC8A):c.1458C>T (p.Pro486=)
NM_019594.3(LRRC8A):c.1509C>T (p.Thr503=) rs3750318
NM_019594.3(LRRC8A):c.1586C>T (p.Ala529Val)
NM_019594.3(LRRC8A):c.1699G>A (p.Val567Met) rs143836544
NM_019594.3(LRRC8A):c.1803T>C (p.Cys601=)
NM_019594.3(LRRC8A):c.203C>T (p.Ser68Leu)
NM_019594.3(LRRC8A):c.2118C>G (p.Leu706=)
NM_019594.3(LRRC8A):c.51C>T (p.Tyr17=)
NM_019594.3(LRRC8A):c.774C>T (p.Asp258=) rs41275930

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