ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

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_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_001291303.3(FAT4):c.1012G>A (p.Glu338Lys) rs1452017220 0.00001
NM_001291303.3(FAT4):c.3470A>C (p.Asn1157Thr) rs764042588 0.00001
NM_032415.7(CARD11):c.2564G>A (p.Arg855Gln) rs928782717 0.00001
NM_000135.4(FANCA):c.1226-13G>A rs377159744
NM_001556.3(IKBKB):c.368T>C (p.Leu123Pro)
NM_003978.5(PSTPIP1):c.244C>T (p.Gln82Ter)
NM_005488.3(TOM1):c.970G>A (p.Asp324Asn)
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006939.4(SOS2):c.1_20dup (p.Tyr8fs)

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