ClinVar Miner

List of variants reported as likely benign for agranulocytosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_003136.4(SRP54):c.1327+16_1327+32del rs369856554 0.16649
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_000081.4(LYST):c.4863-19T>C rs150288597 0.00393
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_005263.5(GFI1):c.792C>T (p.Phe264=) rs114487177 0.00276
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_003136.4(SRP54):c.636A>C (p.Ile212=) rs140228686 0.00113
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=) rs150083315 0.00053
NM_003664.5(AP3B1):c.279+16A>G rs199804239 0.00035
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_000377.3(WAS):c.1110A>C (p.Pro370=) rs782244198 0.00028
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_000377.3(WAS):c.1191G>A (p.Pro397=) rs782486251 0.00019
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu) rs782307200 0.00019
NM_001164277.2(SLC37A4):c.148+20G>A rs782050642 0.00013
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_024598.4(USB1):c.387G>C (p.Leu129=) rs542658449 0.00010
NM_152564.5(VPS13B):c.10868-7G>A rs376141593 0.00009
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=) rs368678559 0.00007
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=) rs781824710 0.00006
NM_000377.3(WAS):c.339C>T (p.Phe113=) rs782233413 0.00003
NM_000377.3(WAS):c.420C>T (p.Leu140=) rs782639067 0.00002
NM_024598.4(USB1):c.111C>T (p.Pro37=) rs767672950 0.00002
NM_000377.3(WAS):c.867T>C (p.Leu289=) rs781855402 0.00001
NM_000377.3(WAS):c.897G>A (p.Gly299=) rs782793103 0.00001
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=) rs1043721709 0.00001
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=) rs782326705 0.00001
NM_000081.4(LYST):c.2363+7A>T
NM_000081.4(LYST):c.5461-3del rs557545474
NM_000081.4(LYST):c.7461-11_7461-9del rs777633676
NM_000377.3(WAS):c.470G>A (p.Arg157His) rs369850591
NM_000377.3(WAS):c.498C>G (p.Ala166=) rs2147264155
NM_000377.3(WAS):c.560-5dup rs782563873
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=) rs782547500
NM_003664.5(AP3B1):c.705T>C (p.Asp235=) rs779084730
NM_005263.5(GFI1):c.925-40CT[15] rs35896485
NM_005263.5(GFI1):c.925-40CT[19] rs35896485

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