ClinVar Miner

List of variants reported as uncertain significance for TFRC-related combined immunodeficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001128148.3(TFRC):c.1136A>G (p.Asn379Ser) rs539830157 0.00017
NM_001128148.3(TFRC):c.2186C>T (p.Thr729Met) rs202242239 0.00013
NM_001128148.3(TFRC):c.310A>G (p.Thr104Ala) rs201408488 0.00008
NM_001128148.3(TFRC):c.1181A>G (p.Lys394Arg) rs1717655314
NM_001128148.3(TFRC):c.1678-3C>T rs769019945
NM_001128148.3(TFRC):c.464G>C (p.Arg155Pro) rs775554571
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436

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