ClinVar Miner

List of variants studied for lymphoid system disorder by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) rs761261049 0.00005
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser) rs104894458 0.00001
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002880.4(RAF1):c.1353G>C (p.Gln451His)
NM_005633.4(SOS1):c.844T>C (p.Cys282Arg) rs1671004485
NM_006767.4(LZTR1):c.163C>T (p.Arg55Trp)

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