ClinVar Miner

List of variants studied for Hyper-IgM syndrome type 5 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_080911.3(UNG):c.752T>C (p.Phe251Ser) rs104894380 0.00001
NM_080911.3(UNG):c.392del (p.Pro131fs) rs778896112
NM_080911.3(UNG):c.428_429del (p.Ile143fs) rs1426188025
NM_080911.3(UNG):c.572_573del (p.Glu191fs) rs2499982456

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