ClinVar Miner

List of variants studied for immune system disorder by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter) rs759511516 0.00003
GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) rs587779413
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_018389.5(SLC35C1):c.887A>G (p.His296Arg) rs2134598287
NM_032415.7(CARD11):c.128C>T (p.Thr43Met) rs2115094112
NM_032415.7(CARD11):c.173A>G (p.Asp58Gly) rs1780506565
NM_032415.7(CARD11):c.179T>A (p.Val60Glu) rs1583410780
NM_032415.7(CARD11):c.191C>G (p.Pro64Arg) rs1583410771
NM_032415.7(CARD11):c.215G>T (p.Arg72Leu) rs2115093887
NM_032415.7(CARD11):c.220+1G>A rs1554276623
NM_032415.7(CARD11):c.358+1G>A rs2115090359

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