ClinVar Miner

List of variants studied for lymphoid system disorder by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_003764.4(STX11):c.391C>T (p.Gln131Ter) rs794729649
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076

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