ClinVar Miner

List of variants studied for Kostmann syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp) rs138296453 0.00018
NM_006118.4(HAX1):c.122G>T (p.Gly41Val) rs369987963 0.00006
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser) rs780614125 0.00002
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_006118.4(HAX1):c.663+1G>A rs41313932 0.00001
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437

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