ClinVar Miner

List of variants studied for Immunodeficiency 31B by Mendelics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
NM_007315.4(STAT1):c.514T>C (p.Phe172Leu) rs2125075036
NM_007315.4(STAT1):c.536A>G (p.Asn179Ser) rs774611299
NM_007315.4(STAT1):c.876C>A (p.Asp292Glu) rs1085307649

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