ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.-530A>G rs3747137 0.11724
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751 0.06757
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=) rs76433453 0.02452
NM_001271769.2(AP3B1):c.*588A>G rs114954951 0.02413
NM_181507.2(HPS5):c.1785-13C>T rs73430857 0.02128
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728 0.02127
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959 0.01542
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_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_032383.5(HPS3):c.*170C>T rs182666670 0.00795
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_022081.6(HPS4):c.*1850G>A rs143168600 0.00456
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493 0.00309
NM_000195.5(HPS1):c.*736C>T rs149708847 0.00306
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_022081.6(HPS4):c.*1589C>A rs117397456 0.00238
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132 0.00237
NM_024747.6(HPS6):c.1779G>A (p.Pro593=) rs77529785 0.00228
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_022081.6(HPS4):c.15C>T (p.Thr5=) rs144622501 0.00193
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_022081.6(HPS4):c.-185A>G rs188205202 0.00154
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) rs140234219 0.00153
NM_022081.6(HPS4):c.*1253G>A rs534586940 0.00121
NM_022081.6(HPS4):c.-585T>G rs187762406 0.00105
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_181507.2(HPS5):c.*70C>T rs371535842 0.00087
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262 0.00076
NM_022081.6(HPS4):c.-395A>C rs147631281 0.00047
NM_022081.5(HPS4):c.-661G>T rs753668169 0.00045
NM_022081.6(HPS4):c.*751G>A rs190837977 0.00039
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_181507.2(HPS5):c.*688A>G rs145507598 0.00024
NM_181507.2(HPS5):c.*362G>A rs148862838 0.00021
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys) rs143204089 0.00019
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515 0.00014
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432 0.00008
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) rs200704721 0.00007
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys) rs373272114 0.00006
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_000195.5(HPS1):c.-219C>G rs574471533 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_024747.6(HPS6):c.105T>C (p.Arg35=) rs573488604 0.00001
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser) rs547880287 0.00001
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_032383.5(HPS3):c.884+25del rs10693502

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