ClinVar Miner

List of variants studied for leukopenia by Genome-Nilou Lab

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_005263.5(GFI1):c.465C>T (p.Cys155=) rs11164605 0.84576
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_032492.4(JAGN1):c.96T>C (p.Thr32=) rs279553 0.69356
NM_024598.4(USB1):c.99-36G>A rs3743560 0.60216
NM_000760.4(CSF3R):c.1260T>C (p.Thr420=) rs3917981 0.59625
NM_000760.4(CSF3R):c.1254T>C (p.Arg418=) rs3917980 0.28603
NM_183235.3(RAB27A):c.*14C>T rs1050931 0.27464
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=) rs8192696 0.24916
NM_152564.5(VPS13B):c.10061+24G>A rs34513504 0.23936
NM_006118.4(HAX1):c.-58T>G rs11265425 0.21409
NM_152564.5(VPS13B):c.3666+55T>C rs3134156 0.17268
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_001164277.2(SLC37A4):c.626+19C>T rs741811 0.11102
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_001164277.2(SLC37A4):c.626+14C>T rs56394886 0.01293
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00215
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
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_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00016
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_152564.5(VPS13B):c.1762A>G (p.Ser588Gly) rs759332797 0.00009
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly) rs749751670 0.00006
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val) rs782475284 0.00005
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=) rs775601813 0.00002
NM_017890.5(VPS13B):c.4232G>A (p.Arg1411His) rs1821581494 0.00001
NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys) rs116951775 0.00001
NM_152564.5(VPS13B):c.6262G>A (p.Asp2088Asn) rs1056435586 0.00001
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=) rs564362618 0.00001
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu) rs1326123837
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) rs538938823
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu) rs1295327218
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_152564.5(VPS13B):c.11958G>A (p.Met3986Ile) rs774937754
NM_152564.5(VPS13B):c.1774C>T (p.His592Tyr) rs1588083628
NM_152564.5(VPS13B):c.2824+97G>C rs7840337
NM_152564.5(VPS13B):c.3330G>T (p.Met1110Ile) rs773628960
NM_152564.5(VPS13B):c.3650A>T (p.Lys1217Ile) rs138000928
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs) rs2133637251
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs) rs2133812056
NM_152564.5(VPS13B):c.5326G>T (p.Val1776Phe) rs547179338
NM_152564.5(VPS13B):c.7295C>T (p.Thr2432Ile) rs2130668061
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter) rs910393433
NM_152564.5(VPS13B):c.7610T>C (p.Val2537Ala) rs751188155
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206

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