ClinVar Miner

List of variants studied for immune system disorder by Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) rs1887957 0.75495
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr) rs529208 0.47790
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) rs2297079 0.44487
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32449
NM_000551.4(VHL):c.340+648T>C rs73024533 0.01009
NM_001905.4(CTPS1):c.1692-1G>C rs145092287 0.00015
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000551.4(VHL):c.340+816A>C rs1031288121 0.00001
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr) rs1275511136 0.00001
NM_000204.5(CFI):c.191C>T (p.Pro64Leu)
NM_000204.5(CFI):c.262C>A (p.Gln88Lys)
NM_001017915.3(INPP5D):c.1437+2T>C
NM_001391963.1(VDAC2):c.587A>G (p.Asn196Ser)
NM_002838.5(PTPRC):c.2295C>G (p.Tyr765Ter) rs1571880832
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_004523.4(KIF11):c.1288GAG[2] (p.Glu432del) rs1554861545
NM_014319.5(LEMD3):c.1522+11509_1522+11513del
NM_032590.5(KDM2B):c.3305G>C (p.Trp1102Ser)
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_138387.4(G6PC3):c.911dup (p.Gln305fs) rs34019455
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs) rs869312169
Single allele

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