ClinVar Miner

List of variants studied for Severe congenital neutropenia

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) rs756667927 0.00001
NM_015122.3(FCHO1):c.489+1G>A rs2091196149 0.00001
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg) rs587777730 0.00001
NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln) rs777966677 0.00001
NM_000760.4(CSF3R):c.1576+1G>A rs1031224658
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_005263.5(GFI1):c.925-40CT[13] rs35896485
NM_005263.5(GFI1):c.925-40CT[15] rs35896485
NM_005263.5(GFI1):c.925-40CT[16] rs35896485
NM_005263.5(GFI1):c.925-40CT[17] rs35896485
NM_005263.5(GFI1):c.925-40CT[20] rs35896485
NM_005263.5(GFI1):c.925-40CT[22] rs35896485
NM_005263.5(GFI1):c.925-40CT[23] rs35896485
NM_005263.5(GFI1):c.925-40CT[25] rs35896485
NM_005263.5(GFI1):c.925-7_925-6insTCTCTT rs766365921
NM_006118.4(HAX1):c.-53del rs373592376
NM_006118.4(HAX1):c.556+1G>A
NM_006118.4(HAX1):c.601C>T (p.Gln201Ter)
NM_015122.3(FCHO1):c.100G>C (p.Ala34Pro) rs2086875746
NM_015122.3(FCHO1):c.1948C>T (p.Arg650Ter) rs1336566500
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_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.297C>G (p.Tyr99Ter) rs786205705
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_138387.4(G6PC3):c.*1CTT[1] rs761219348
NM_138387.4(G6PC3):c.-191T>G rs886052984
NM_156039.3(CSF3R):c.[1245delG];[948_963del16]

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