ClinVar Miner

List of variants reported as likely pathogenic for hypersensitivity reaction disease

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001372051.1(CASP8):c.306-1910G>A rs373232880 0.00002
NM_001372051.1(CASP8):c.411+1G>C rs1948252170 0.00001
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp) rs17860424 0.00001
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705 0.00001
NM_006254.4(PRKCD):c.788-2A>G rs1295207359 0.00001
46;XX;t(4;14)(p15.2;q13)dn
NC_000002.12:g.(?_201276807)_(201276988_?)dup
NM_000043.6(FAS):c.197-1G>A rs2133502090
NM_000043.6(FAS):c.197-2A>G rs1564691414
NM_000043.6(FAS):c.20T>C (p.Leu7Pro) rs2133384423
NM_000043.6(FAS):c.30+2T>C
NM_000043.6(FAS):c.323A>G (p.Asp108Gly) rs1848315820
NM_000043.6(FAS):c.341A>T (p.Glu114Val)
NM_000043.6(FAS):c.404G>A (p.Cys135Tyr)
NM_000043.6(FAS):c.505+1G>C rs2133527951
NM_000043.6(FAS):c.536T>G (p.Leu179Arg) rs1554851718
NM_000043.6(FAS):c.569-1G>T
NM_000043.6(FAS):c.651+1G>A rs1564696849
NM_000043.6(FAS):c.651+5G>T
NM_000043.6(FAS):c.693dup (p.Tyr232fs)
NM_000043.6(FAS):c.713G>T (p.Gly238Val)
NM_000043.6(FAS):c.718_719insGTCG (p.Met240fs)
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000043.6(FAS):c.776T>C (p.Ile259Thr) rs1848675068
NM_000043.6(FAS):c.779A>G (p.Asp260Gly)
NM_000043.6(FAS):c.789G>C (p.Lys263Asn) rs2119446096
NM_000043.6(FAS):c.802dup (p.Gln268fs)
NM_000043.6(FAS):c.814G>C (p.Glu272Gln)
NM_000043.6(FAS):c.833T>A (p.Leu278His)
NM_000525.4(KCNJ11):c.185C>G (p.Thr62Arg) rs1057518775
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_005214.5(CTLA4):c.109+1G>A rs606231421
NM_005214.5(CTLA4):c.109+1G>T rs606231421
NM_005214.5(CTLA4):c.110-1G>A
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) rs1553657387
NM_005214.5(CTLA4):c.173G>A (p.Cys58Tyr)
NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser) rs1581573923
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
NM_005214.5(CTLA4):c.60G>A (p.Trp20Ter) rs886041906
NM_006254.4(PRKCD):c.1743+2T>A
NM_006254.4(PRKCD):c.571+1G>A
NM_006254.4(PRKCD):c.788-1G>T
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1151C>T (p.Ala384Val) rs2147944159
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014009.4(FOXP3):c.1270_1272delinsC (p.Cys424fs) rs1569529565
NM_014009.4(FOXP3):c.315+1G>A
NM_014009.4(FOXP3):c.315+2T>A rs2147949090
NM_014009.4(FOXP3):c.434C>T (p.Ala145Val) rs782528935
NM_014009.4(FOXP3):c.454+4A>G rs2147948858
NM_014009.4(FOXP3):c.542+2T>G
NM_014009.4(FOXP3):c.543-2A>G
NM_014009.4(FOXP3):c.736-1G>A rs1602684221
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471

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