ClinVar Miner

List of variants studied for Immunodeficiency 67 by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter) rs121908002 0.00035
NM_016123.4(IRAK4):c.831+5G>T rs758539498 0.00002
NM_016123.4(IRAK4):c.34C>T (p.Arg12Cys) rs377584435 0.00001
NM_016123.4(IRAK4):c.1189-1G>T rs1565688667
NM_016123.4(IRAK4):c.123dup (p.Pro42fs) rs1940376224
NM_016123.4(IRAK4):c.524del (p.Asn175fs) rs1940922749
NM_016123.4(IRAK4):c.623_624del (p.Thr208fs) rs1421444086
NM_016123.4(IRAK4):c.821del (p.Leu274fs) rs1565678077

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