ClinVar Miner

List of variants reported as benign for hemophagocytic syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 280
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) rs6791 0.67805
NM_001083116.3(PRF1):c.900C>T (p.His300=) rs885822 0.67032
NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=) rs7210574 0.49757
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_006949.4(STXBP2):c.1356+18A>G rs889187 0.44557
NM_006949.4(STXBP2):c.1443T>C (p.Asp481=) rs10001 0.43223
NM_006949.4(STXBP2):c.38-7C>T rs8104339 0.42983
NM_000081.4(LYST):c.1251A>G (p.Gln417=) rs1063128 0.41864
NM_000081.4(LYST):c.1683A>G (p.Leu561=) rs3820553 0.41844
NM_000081.4(LYST):c.4956A>G (p.Leu1652=) rs6696123 0.41826
NM_000081.4(LYST):c.5373G>A (p.Lys1791=) rs2273584 0.41769
NM_199242.3(UNC13D):c.117+59C>T rs3744010 0.31218
NM_199242.3(UNC13D):c.154-19G>A rs3744009 0.24392
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_199242.3(UNC13D):c.1992+5G>A rs17581728 0.19407
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_001083116.3(PRF1):c.822C>T (p.Ala274=) rs885821 0.16394
NM_000081.4(LYST):c.153A>C (p.Gly51=) rs11464 0.13219
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_000081.4(LYST):c.4392C>T (p.Asn1464=) rs11583387 0.09239
NM_006949.4(STXBP2):c.1696+20A>G rs2303113 0.08971
NM_199242.3(UNC13D):c.2943G>A (p.Glu981=) rs35628234 0.07237
NM_000081.4(LYST):c.2316C>T (p.Asp772=) rs16832868 0.05899
NM_000081.4(LYST):c.5847G>C (p.Gln1949His) rs6665568 0.05891
NM_000081.4(LYST):c.6630A>G (p.Glu2210=) rs34466404 0.05877
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_000081.4(LYST):c.574T>G (p.Leu192Val) rs7524261 0.04386
NM_006949.4(STXBP2):c.1247-10C>T rs61407177 0.04087
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp) rs35333195 0.04044
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_003764.4(STX11):c.829A>G (p.Thr277Ala) rs9496891 0.03773
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn) rs10465613 0.03661
NM_000081.4(LYST):c.5923-19G>T rs141197189 0.03063
NM_000081.4(LYST):c.7857T>C (p.His2619=) rs34160788 0.02966
NM_000081.4(LYST):c.6900G>A (p.Leu2300=) rs10926586 0.02954
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_199242.3(UNC13D):c.1744C>T (p.Leu582=) rs75853379 0.02622
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_199242.3(UNC13D):c.1977C>T (p.Thr659=) rs2290770 0.02469
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=) rs76433453 0.02452
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241 0.02388
NM_199242.3(UNC13D):c.262-17G>A rs142996967 0.01903
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys) rs35037984 0.01713
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_199242.3(UNC13D):c.951+13T>G rs140758914 0.01637
NM_003664.5(AP3B1):c.1364-18A>G rs112329411 0.01617
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_001083116.3(PRF1):c.462A>G (p.Ala154=) rs116554195 0.01461
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
NM_003664.5(AP3B1):c.1095+17C>T rs58284777 0.01316
NM_199242.3(UNC13D):c.3252T>C (p.His1084=) rs61753922 0.01313
NM_001083116.3(PRF1):c.726C>T (p.Cys242=) rs35329429 0.01263
NM_199242.3(UNC13D):c.1992+11T>C rs112501965 0.01262
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070 0.01200
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267 0.01172
NM_001083116.3(PRF1):c.435G>A (p.Val145=) rs115281140 0.01164
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_003664.5(AP3B1):c.2810-4C>T rs115340604 0.01015
NM_006949.4(STXBP2):c.849G>A (p.Glu283=) rs34450592 0.00997
NM_006949.4(STXBP2):c.169+12C>T rs115239774 0.00930
NM_006949.4(STXBP2):c.1590G>A (p.Ala530=) rs61736589 0.00904
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_001083116.3(PRF1):c.702G>A (p.Ser234=) rs138508223 0.00843
NM_003764.4(STX11):c.146G>A (p.Arg49Gln) rs17073498 0.00767
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_199242.3(UNC13D):c.2298+15C>T rs112341334 0.00741
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_000081.4(LYST):c.7059+7G>A rs111764031 0.00582
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly) rs112601869 0.00580
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=) rs144475533 0.00560
NM_003764.4(STX11):c.799G>A (p.Val267Met) rs45574234 0.00545
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) rs146503597 0.00517
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_001083116.3(PRF1):c.96G>A (p.Lys32=) rs2228018 0.00448
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_000081.4(LYST):c.4863-19T>C rs150288597 0.00393
NM_001083116.3(PRF1):c.444C>T (p.Ala148=) rs61737403 0.00389
NM_199242.3(UNC13D):c.569+19G>A rs61753875 0.00381
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_003664.5(AP3B1):c.1838-19T>G rs140840619 0.00367
NM_006949.4(STXBP2):c.609C>T (p.His203=) rs113694233 0.00367
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_000081.4(LYST):c.5291G>C (p.Gly1764Ala) rs35413645 0.00350
NM_199242.3(UNC13D):c.2554-16C>T rs184354110 0.00346
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr) rs146091043 0.00315
NM_012388.4(BLOC1S6):c.34G>A (p.Ala12Thr) rs145762743 0.00306
NM_000081.4(LYST):c.3359G>T (p.Ser1120Ile) rs143223086 0.00302
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_001083116.3(PRF1):c.403G>A (p.Val135Met) rs12263572 0.00293
NM_000081.4(LYST):c.5223T>C (p.Leu1741=) rs7530527 0.00277
NM_003764.4(STX11):c.546G>A (p.Glu182=) rs146949718 0.00274
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_003664.5(AP3B1):c.1040+9T>A rs201876461 0.00237
NM_183235.3(RAB27A):c.468-3C>T rs113895512 0.00237
NM_012388.4(BLOC1S6):c.82+10A>G rs370370639 0.00235
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) rs144914451 0.00229
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_006949.4(STXBP2):c.1538+10C>T rs139200597 0.00210
NM_199242.3(UNC13D):c.2091+16G>T rs10401023 0.00202
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_199242.3(UNC13D):c.2831-20A>T rs149809768 0.00199
NM_199242.3(UNC13D):c.2955-14G>C rs138462345 0.00196
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_001083116.3(PRF1):c.1560C>T (p.Arg520=) rs147087107 0.00175
NM_199242.3(UNC13D):c.1056-13C>T rs141030299 0.00169
NM_006949.4(STXBP2):c.495C>T (p.Arg165=) rs2303116 0.00164
NM_001083116.3(PRF1):c.873C>T (p.Ser291=) rs149008090 0.00139
NM_199242.3(UNC13D):c.567C>A (p.Ile189=) rs147903551 0.00134
NM_006949.4(STXBP2):c.246+18C>T rs201657700 0.00133
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_012388.4(BLOC1S6):c.224+17C>A rs142188315 0.00126
NM_199242.3(UNC13D):c.547G>A (p.Val183Ile) rs141692294 0.00115
NM_003664.5(AP3B1):c.375+11G>A rs190638302 0.00114
NM_001083116.3(PRF1):c.528C>T (p.Cys176=) rs138588977 0.00113
NM_000081.4(LYST):c.4548C>T (p.Ser1516=) rs116551057 0.00108
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_199242.3(UNC13D):c.2625+19C>T rs188535511 0.00104
NM_006949.4(STXBP2):c.960+18T>A rs200402185 0.00101
NM_199242.3(UNC13D):c.24G>A (p.Pro8=) rs143320460 0.00095
NM_000081.4(LYST):c.6588A>G (p.Gly2196=) rs34423788 0.00093
NM_006949.4(STXBP2):c.822G>A (p.Ala274=) rs138099253 0.00090
NM_199242.3(UNC13D):c.99G>A (p.Pro33=) rs147886860 0.00090
NM_001083116.3(PRF1):c.615C>T (p.Asn205=) rs141130900 0.00088
NM_000081.4(LYST):c.2769A>C (p.Ser923=) rs112739986 0.00086
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) rs149776121 0.00083
NM_006949.4(STXBP2):c.846C>T (p.Asp282=) rs143108973 0.00080
NM_003764.4(STX11):c.681C>T (p.Leu227=) rs145774130 0.00073
NM_199242.3(UNC13D):c.1389+12G>A rs199536082 0.00070
NM_199242.3(UNC13D):c.2052C>G (p.Leu684=) rs150861045 0.00070
NM_199242.3(UNC13D):c.858+12A>C rs191712530 0.00063
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln) rs138506576 0.00061
NM_001083116.3(PRF1):c.1428G>A (p.Gly476=) rs145695221 0.00061
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_199242.3(UNC13D):c.1174-15C>G rs374069629 0.00059
NM_199242.3(UNC13D):c.2710-8C>G rs545824447 0.00057
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=) rs372034111 0.00056
NM_006949.4(STXBP2):c.816C>T (p.Ser272=) rs78010345 0.00053
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_001083116.3(PRF1):c.1041C>T (p.His347=) rs150104693 0.00045
NM_001083116.3(PRF1):c.286C>A (p.Arg96=) rs144024245 0.00045
NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys) rs141660796 0.00043
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_006949.4(STXBP2):c.185A>G (p.Asn62Ser) rs540968221 0.00040
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_000081.4(LYST):c.9198C>T (p.Ser3066=) rs543359133 0.00039
NM_001083116.3(PRF1):c.807C>T (p.His269=) rs147453010 0.00039
NM_000081.4(LYST):c.1655T>C (p.Val552Ala) rs199617821 0.00038
NM_183235.3(RAB27A):c.399C>T (p.Asn133=) rs577958598 0.00036
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=) rs143184345 0.00034
NM_000081.4(LYST):c.4863-4G>A rs201382097 0.00032
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met) rs181216956 0.00031
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=) rs144730861 0.00030
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_003664.5(AP3B1):c.1168-9C>T rs367648410 0.00024
NM_199242.3(UNC13D):c.2447+19C>T rs775204018 0.00023
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser) rs139564938 0.00020
NM_003664.5(AP3B1):c.402C>T (p.Ser134=) rs144761256 0.00018
NM_000081.4(LYST):c.2700A>G (p.Leu900=) rs111463684 0.00017
NM_001083116.3(PRF1):c.630C>T (p.Pro210=) rs144004164 0.00014
NM_006949.4(STXBP2):c.717C>T (p.Pro239=) rs367755105 0.00014
NM_199242.3(UNC13D):c.261+8C>T rs573508258 0.00014
NM_199242.3(UNC13D):c.2709+6G>T rs199529082 0.00014
NM_000081.4(LYST):c.1494A>G (p.Arg498=) rs201412615 0.00013
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser) rs201255245 0.00013
NM_000081.4(LYST):c.2517T>C (p.Ile839=) rs78172154 0.00012
NM_006949.4(STXBP2):c.1356+13C>T rs544312114 0.00011
NM_001083116.3(PRF1):c.363G>A (p.Ala121=) rs146358730 0.00010
NM_003664.5(AP3B1):c.537-9A>G rs372285421 0.00009
NM_199242.3(UNC13D):c.154-8T>A rs369433391 0.00009
NM_003664.5(AP3B1):c.2993-15C>A rs202232687 0.00008
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_000081.4(LYST):c.6078C>T (p.Tyr2026=) rs80338660 0.00006
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_199242.3(UNC13D):c.2499C>T (p.Ala833=) rs200014965 0.00006
NM_199242.3(UNC13D):c.570-18G>A rs200526730 0.00005
NM_199242.3(UNC13D):c.2554-13A>G rs533490795 0.00004
NM_199242.3(UNC13D):c.569+10C>T rs368069154 0.00004
NM_199242.3(UNC13D):c.3270G>A (p.Pro1090=) rs545430645 0.00003
NM_003664.5(AP3B1):c.1186T>C (p.Leu396=) rs574476271 0.00002
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu) rs539146732 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_001083116.3(PRF1):c.111C>T (p.Phe37=) rs547321451 0.00001
NM_006949.4(STXBP2):c.420C>T (p.Tyr140=) rs373462454 0.00001
NM_199242.3(UNC13D):c.1611G>A (p.Val537=) rs538427767 0.00001
NM_000081.4(LYST):c.10143+15dup
NM_000081.4(LYST):c.10374+20A>G
NM_000081.4(LYST):c.10565-20del
NM_000081.4(LYST):c.10940+20A>G
NM_000081.4(LYST):c.10941-8dup
NM_000081.4(LYST):c.11196-10del
NM_000081.4(LYST):c.11196-10dup
NM_000081.4(LYST):c.11268-17dup rs36014994
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000081.4(LYST):c.11268-6_11268-5del rs36014994
NM_000081.4(LYST):c.2363+17G>A
NM_000081.4(LYST):c.2364-16dup
NM_000081.4(LYST):c.3436C>T (p.Leu1146Phe)
NM_000081.4(LYST):c.3940-17dup
NM_000081.4(LYST):c.4007-20dup
NM_000081.4(LYST):c.4688+19C>A
NM_000081.4(LYST):c.4863-11T>G
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.5024-12del
NM_000081.4(LYST):c.5461-13_5461-12dup rs557545474
NM_000081.4(LYST):c.5461-3del rs557545474
NM_000081.4(LYST):c.5461-3dup rs557545474
NM_000081.4(LYST):c.5923-11del
NM_000081.4(LYST):c.5923-11dup
NM_000081.4(LYST):c.5923-4dup
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.6122-13dup
NM_000081.4(LYST):c.6253+18G>A
NM_000081.4(LYST):c.6552G>A (p.Gln2184=)
NM_000081.4(LYST):c.7562G>C (p.Arg2521Thr)
NM_000081.4(LYST):c.7973-11del
NM_000081.4(LYST):c.8359-19del
NM_000081.4(LYST):c.8359-5dup
NM_000081.4(LYST):c.8948-12del
NM_000081.4(LYST):c.9162+11G>A
NM_000081.4(LYST):c.9316-19del
NM_001083116.3(PRF1):c.434T>C (p.Val145Ala) rs535296791
NM_001083116.3(PRF1):c.519G>C (p.Thr173=) rs112883709
NM_003664.5(AP3B1):c.129-18del
NM_003664.5(AP3B1):c.129-18dup rs201281724
NM_003664.5(AP3B1):c.1411A>C (p.Met471Leu) rs556638927
NM_003664.5(AP3B1):c.1650+12del rs563512609
NM_003664.5(AP3B1):c.2112C>T (p.Gly704=) rs35976098
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.280-6del rs5868908
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_006949.4(STXBP2):c.1027-17CACCCTG[3] rs776600326
NM_006949.4(STXBP2):c.1107+22del
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1246+11del
NM_006949.4(STXBP2):c.1356+25del
NM_006949.4(STXBP2):c.1538+11G>A rs560026431
NM_006949.4(STXBP2):c.1538+14del rs1430700652
NM_006949.4(STXBP2):c.1538+22del
NM_006949.4(STXBP2):c.169+18del
NM_006949.4(STXBP2):c.246+19GT[3] rs771901697
NM_006949.4(STXBP2):c.663+19del rs111268794
NM_006949.4(STXBP2):c.87+7dup
NM_012388.4(BLOC1S6):c.313-11dup
NM_012388.4(BLOC1S6):c.400-8del
NM_012388.4(BLOC1S6):c.400-8dup rs373061008
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_199242.3(UNC13D):c.113C>G (p.Pro38Arg) rs202020609
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=) rs568125844
NM_199242.3(UNC13D):c.1447-17C>T rs375860793
NM_199242.3(UNC13D):c.1728-13C>T rs745855631
NM_199242.3(UNC13D):c.2448-8dup rs3217698
NM_199242.3(UNC13D):c.279C>T (p.Pro93=) rs3744007
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp) rs118049905
NM_199242.3(UNC13D):c.3152-19del
NM_199242.3(UNC13D):c.388+8T>C
NM_199242.3(UNC13D):c.389-13del
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416

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