ClinVar Miner

List of variants studied for autosomal recessive severe congenital neutropenia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
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ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr) rs142999683 0.00089
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
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.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_006118.4(HAX1):c.317-2A>G rs371504152 0.00009
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_007259.5(VPS45):c.1033C>T (p.Arg345Trp) rs782225422 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_007259.5(VPS45):c.200A>G (p.Lys67Arg) rs1348750495 0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909 0.00001
NM_000760.4(CSF3R):c.843+2T>C rs1650834071
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter) rs1572018284
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.4(HAX1):c.556+1_556+2dup
NM_006118.4(HAX1):c.57_58del (p.His19fs)
NM_006118.4(HAX1):c.663+1G>C
NM_007259.5(VPS45):c.739A>G (p.Ile247Val) rs1553799320

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