ClinVar Miner

List of variants in gene PIK3CD reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys) rs141200414 0.00028
NM_005026.5(PIK3CD):c.112C>T (p.Arg38Cys) rs765729544 0.00011
NM_005026.5(PIK3CD):c.1642C>T (p.Arg548Trp) rs780269932 0.00002
NM_005026.5(PIK3CD):c.2488C>T (p.Arg830Cys) rs554743340 0.00001
NM_005026.5(PIK3CD):c.1721T>C (p.Leu574Pro) rs2100962426
NM_005026.5(PIK3CD):c.2732A>G (p.Asp911Gly) rs1570400255
NM_005026.5(PIK3CD):c.407T>C (p.Val136Ala)
NM_005026.5(PIK3CD):c.476G>A (p.Trp159Ter) rs1570358964
NM_005026.5(PIK3CD):c.597C>A (p.Ser199Arg)
NM_005026.5(PIK3CD):c.665G>A (p.Arg222Gln) rs1216060233
NM_005026.5(PIK3CD):c.970C>T (p.Arg324Cys) rs762697236

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