ClinVar Miner

List of variants reported as likely benign for constitutional neutropenia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_000081.4(LYST):c.4392C>T (p.Asn1464=) rs11583387 0.09239
NM_152564.5(VPS13B):c.*702dup rs200421894 0.03823
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NC_000008.11:g.99877598T>G rs10106711 0.01850
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_152564.5(VPS13B):c.*336_*353dup rs554420171 0.01237
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01021
NM_183235.3(RAB27A):c.*2160A>G rs62020099 0.00739
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_183235.3(RAB27A):c.*132G>A rs77014779 0.00511
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr) rs146091043 0.00315
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_138387.4(G6PC3):c.-194C>T rs28370440 0.00305
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000081.4(LYST):c.1384C>T (p.Pro462Ser) rs77848653 0.00276
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00272
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00212
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_183235.3(RAB27A):c.-142-86A>T rs191174694 0.00165
NM_183235.3(RAB27A):c.*2216A>G rs150526064 0.00158
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu) rs34878178 0.00124
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.*924A>C rs186225330 0.00066
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln) rs138506576 0.00061
NM_183235.3(RAB27A):c.*725C>T rs116903039 0.00054
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894 0.00036
NM_152564.5(VPS13B):c.*305G>A rs149912942 0.00032
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_183235.3(RAB27A):c.*668A>G rs118003408 0.00016
NM_000081.4(LYST):c.1494A>G (p.Arg498=) rs201412615 0.00013
NM_152564.5(VPS13B):c.*1207G>C rs182082022 0.00010
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys) rs144350008 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_000081.4(LYST):c.8497G>A (p.Ala2833Thr) rs200813210 0.00003
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) rs781986219 0.00002
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_000081.4(LYST):c.-7-14T>C
NM_000081.4(LYST):c.11268-6_11268-5del rs36014994
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.9162+11G>A
NM_001301365.1(LYST):c.-98+16250G>C
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_006118.4(HAX1):c.-53del rs373592376
NM_152564.5(VPS13B):c.*1212TC[4] rs1258731393
NM_152564.5(VPS13B):c.*250_*252dup rs71274940
NM_152564.5(VPS13B):c.*33_*36dup rs373852425
NM_152564.5(VPS13B):c.*374ATTT[1] rs374440758
NM_152564.5(VPS13B):c.*597_*598dup rs397791669
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_183235.3(RAB27A):c.*1493T>A rs149948399
NM_183235.3(RAB27A):c.-142-65C>G rs150033129
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068

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