ClinVar Miner

List of variants studied for Immunodeficiency 76

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015122.3(FCHO1):c.489+20G>A rs116103463 0.00397
NM_015122.3(FCHO1):c.2401G>A (p.Val801Ile) rs139967668 0.00044
NM_015122.3(FCHO1):c.100G>C (p.Ala34Pro) rs2086875746
NM_015122.3(FCHO1):c.120-1G>C rs2087831882
NM_015122.3(FCHO1):c.195-2A>C rs2089298923
NM_015122.3(FCHO1):c.2023dup (p.Val675fs) rs2093571190
NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro) rs530286781
NM_015122.3(FCHO1):c.27+1G>A rs2083028943
NM_015122.3(FCHO1):c.596G>A (p.Arg199His)

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