ClinVar Miner

List of variants studied for immune system disorder by Clinical Genomics Laboratory, Stanford Medicine

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515 0.00010
NM_001364905.1(LRBA):c.2849G>T (p.Cys950Phe) rs751947187 0.00002
NM_006939.4(SOS2):c.2350C>T (p.Arg784Cys) rs760520078 0.00002
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met) rs1441175300 0.00001
NM_021067.5(GINS1):c.256C>T (p.Arg86Trp) rs967614894 0.00001
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe) rs752776388
NM_021067.5(GINS1):c.52delinsCA (p.Glu18fs) rs2090256422
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892

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