ClinVar Miner

List of variants in gene combination CP, HPS3 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11504
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03059
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_000096.4(CP):c.*509A>C rs13098532 0.00867
NM_032383.5(HPS3):c.2888-42G>A rs138521782 0.00848
NM_032383.5(HPS3):c.2887+247A>G rs114694221 0.00824
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_032383.5(HPS3):c.*170C>T rs182666670 0.00795
NM_000096.4(CP):c.*474T>C rs34936395 0.00519
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522 0.00038
NM_032383.5(HPS3):c.2364A>G (p.Ala788=) rs149563235 0.00034
NM_032383.5(HPS3):c.2562T>C (p.Asn854=) rs139697700 0.00023
NM_032383.5(HPS3):c.2598A>C (p.Ile866=) rs564057556 0.00013
NM_032383.5(HPS3):c.2472G>A (p.Ser824=) rs201221505 0.00009
NM_032383.5(HPS3):c.2590-7T>C rs200846027 0.00006
NM_032383.5(HPS3):c.2481+12G>T rs200706125 0.00005
NM_032383.5(HPS3):c.2610A>G (p.Ser870=) rs769485246 0.00005
NM_032383.5(HPS3):c.2721C>T (p.Cys907=) rs559817128 0.00005
NM_032383.5(HPS3):c.2565T>C (p.Tyr855=) rs771573991 0.00004
NM_032383.5(HPS3):c.2430G>A (p.Leu810=) rs544198427 0.00003
NM_032383.5(HPS3):c.2634G>A (p.Pro878=) rs147593958 0.00003
NM_032383.5(HPS3):c.2887+17_2887+18insG rs768227421 0.00003
NM_032383.5(HPS3):c.2293-18C>T rs1465390779 0.00002
NM_032383.5(HPS3):c.2625C>T (p.Ser875=) rs200121725 0.00002
NM_032383.5(HPS3):c.2667C>T (p.Ala889=) rs761310586 0.00002
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_032383.5(HPS3):c.2829T>C (p.Leu943=) rs1307983114 0.00002
NM_032383.5(HPS3):c.2856G>A (p.Glu952=) rs1470419588 0.00002
NM_032383.5(HPS3):c.2887+13T>C rs748217341 0.00002
NM_032383.5(HPS3):c.2946A>G (p.Pro982=) rs1209045557 0.00002
NM_032383.5(HPS3):c.2293-11C>T rs751408954 0.00001
NM_032383.5(HPS3):c.2316T>C (p.Asp772=) rs1450433255 0.00001
NM_032383.5(HPS3):c.2355G>A (p.Gln785=) rs1366063625 0.00001
NM_032383.5(HPS3):c.2442G>A (p.Gln814=) rs2108170692 0.00001
NM_032383.5(HPS3):c.2482-12T>C rs1214739484 0.00001
NM_032383.5(HPS3):c.2529C>T (p.Val843=) rs750615496 0.00001
NM_032383.5(HPS3):c.2553T>G (p.Ala851=) rs562113325 0.00001
NM_032383.5(HPS3):c.2589+17C>G rs1178729691 0.00001
NM_032383.5(HPS3):c.2589+18_2589+20del rs1476178602 0.00001
NM_032383.5(HPS3):c.2590-5C>T rs1438358318 0.00001
NM_032383.5(HPS3):c.2616C>T (p.Asp872=) rs1724496876 0.00001
NM_032383.5(HPS3):c.2652A>G (p.Ser884=) rs1724499192 0.00001
NM_032383.5(HPS3):c.2679C>G (p.Val893=) rs1337661796 0.00001
NM_032383.5(HPS3):c.2686C>T (p.Leu896=) rs964384154 0.00001
NM_032383.5(HPS3):c.2697A>G (p.Thr899=) rs1724504932 0.00001
NM_032383.5(HPS3):c.2748G>A (p.Pro916=) rs1333599936 0.00001
NM_032383.5(HPS3):c.2763A>G (p.Pro921=) rs1339644896 0.00001
NM_032383.5(HPS3):c.2769T>C (p.Ala923=) rs201248089 0.00001
NM_032383.5(HPS3):c.2790G>A (p.Glu930=) rs551986971 0.00001
NM_032383.5(HPS3):c.2797-18C>T rs763208429 0.00001
NM_032383.5(HPS3):c.2797-8T>C rs1724585170 0.00001
NM_032383.5(HPS3):c.2800C>T (p.Leu934=) rs767242000 0.00001
NM_032383.5(HPS3):c.2859G>A (p.Lys953=) rs149669748 0.00001
NM_032383.5(HPS3):c.2871C>T (p.Tyr957=) rs917888974 0.00001
NM_032383.5(HPS3):c.2887+19T>G rs1724601481 0.00001
NM_032383.5(HPS3):c.2888-13C>A rs753447120 0.00001
NM_032383.5(HPS3):c.2888-4A>G rs761374962 0.00001
NM_032383.5(HPS3):c.2895G>A (p.Leu965=) rs765294626 0.00001
NM_032383.5(HPS3):c.2910G>A (p.Val970=) rs758223311 0.00001
NM_032383.5(HPS3):c.2952T>C (p.Asp984=) rs145482910 0.00001
NM_032383.5(HPS3):c.2958T>G (p.Thr986=) rs778369550 0.00001
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) rs1170514296 0.00001
NM_032383.5(HPS3):c.*97CA[22] rs113015797
NM_032383.5(HPS3):c.2293-9G>C rs1270706703
NM_032383.5(HPS3):c.2313A>G (p.Glu771=) rs2108170206
NM_032383.5(HPS3):c.2322T>A (p.Ile774=) rs1723999112
NM_032383.5(HPS3):c.2337A>G (p.Val779=) rs777957241
NM_032383.5(HPS3):c.2361G>A (p.Val787=) rs1724005576
NM_032383.5(HPS3):c.2370C>G (p.Leu790=) rs746304657
NM_032383.5(HPS3):c.2379G>T (p.Val793=) rs1724007894
NM_032383.5(HPS3):c.2391A>G (p.Glu797=) rs536290881
NM_032383.5(HPS3):c.2394C>G (p.Leu798=) rs2473124226
NM_032383.5(HPS3):c.2421C>T (p.Ile807=) rs2473124417
NM_032383.5(HPS3):c.2428T>C (p.Leu810=) rs767483223
NM_032383.5(HPS3):c.2451C>T (p.Asp817=) rs2108170734
NM_032383.5(HPS3):c.2461T>C (p.Leu821=) rs1724018989
NM_032383.5(HPS3):c.2464C>A (p.Arg822=) rs369855073
NM_032383.5(HPS3):c.2479C>T (p.Leu827=) rs773017257
NM_032383.5(HPS3):c.2481+12G>A rs200706125
NM_032383.5(HPS3):c.2482-17del
NM_032383.5(HPS3):c.2482-7G>A rs2108173272
NM_032383.5(HPS3):c.2482-7G>C rs2108173272
NM_032383.5(HPS3):c.2482-7del rs2473128300
NM_032383.5(HPS3):c.2482-9A>G rs2108173264
NM_032383.5(HPS3):c.2490C>T (p.Ala830=) rs2473128407
NM_032383.5(HPS3):c.2502T>C (p.Tyr834=) rs1724138138
NM_032383.5(HPS3):c.2505C>T (p.Gly835=) rs2473128488
NM_032383.5(HPS3):c.2517A>G (p.Pro839=) rs2473128542
NM_032383.5(HPS3):c.2529C>G (p.Val843=)
NM_032383.5(HPS3):c.2571A>G (p.Glu857=) rs2108173627
NM_032383.5(HPS3):c.2577T>G (p.Leu859=) rs2473128901
NM_032383.5(HPS3):c.2589+10_2589+31del rs1237105017
NM_032383.5(HPS3):c.2589+12T>G rs1171103569
NM_032383.5(HPS3):c.2589+14C>T rs2473129001
NM_032383.5(HPS3):c.2589+15C>G rs1358535666
NM_032383.5(HPS3):c.2589+15C>T
NM_032383.5(HPS3):c.2589+18C>T rs1724152517
NM_032383.5(HPS3):c.2589+20T>A rs2473129094
NM_032383.5(HPS3):c.2589+21_2589+25del rs761221765
NM_032383.5(HPS3):c.2590-10C>T rs746559782
NM_032383.5(HPS3):c.2590-17C>G
NM_032383.5(HPS3):c.2590-4A>G rs2472687918
NM_032383.5(HPS3):c.2590-8G>A rs2472687895
NM_032383.5(HPS3):c.2595T>A (p.Leu865=) rs2108183918
NM_032383.5(HPS3):c.2607T>A (p.Pro869=) rs1724496365
NM_032383.5(HPS3):c.2622T>C (p.Ala874=) rs2108184040
NM_032383.5(HPS3):c.2634G>C (p.Pro878=) rs147593958
NM_032383.5(HPS3):c.2637C>T (p.Phe879=) rs774685745
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2670C>T (p.Gly890=) rs1724501600
NM_032383.5(HPS3):c.2679C>T (p.Val893=) rs1337661796
NM_032383.5(HPS3):c.2709G>A (p.Glu903=) rs747611171
NM_032383.5(HPS3):c.2751G>A (p.Glu917=) rs2472689074
NM_032383.5(HPS3):c.2754A>C (p.Ala918=) rs1416919042
NM_032383.5(HPS3):c.2754A>G (p.Ala918=) rs1416919042
NM_032383.5(HPS3):c.2757C>T (p.Val919=) rs1724512016
NM_032383.5(HPS3):c.2763A>T (p.Pro921=) rs1339644896
NM_032383.5(HPS3):c.2766T>C (p.Tyr922=) rs760647222
NM_032383.5(HPS3):c.2769T>A (p.Ala923=) rs201248089
NM_032383.5(HPS3):c.2772T>C (p.Asn924=) rs2472689214
NM_032383.5(HPS3):c.2775T>C (p.His925=) rs762184993
NM_032383.5(HPS3):c.2779C>T (p.Leu927=)
NM_032383.5(HPS3):c.2793C>T (p.Asn931=) rs2472689318
NM_032383.5(HPS3):c.2796+10T>C rs2472689394
NM_032383.5(HPS3):c.2796+7T>A rs2472689384
NM_032383.5(HPS3):c.2796+7T>C rs2472689384
NM_032383.5(HPS3):c.2797-15T>A rs2472692924
NM_032383.5(HPS3):c.2797-19T>C rs2472692892
NM_032383.5(HPS3):c.2797-4A>T rs1724585464
NM_032383.5(HPS3):c.2797-7A>C rs2472692966
NM_032383.5(HPS3):c.2817G>T (p.Leu939=) rs2472693135
NM_032383.5(HPS3):c.2862T>C (p.Tyr954=) rs2108187243
NM_032383.5(HPS3):c.2865A>G (p.Gln955=) rs2108187252
NM_032383.5(HPS3):c.2872C>T (p.Leu958=) rs2472693525
NM_032383.5(HPS3):c.2874G>A (p.Leu958=)
NM_032383.5(HPS3):c.2874G>C (p.Leu958=) rs2108187278
NM_032383.5(HPS3):c.2877A>G (p.Ser959=) rs1576708907
NM_032383.5(HPS3):c.2881T>C (p.Leu961=) rs2472693594
NM_032383.5(HPS3):c.2887+10T>C rs2108187390
NM_032383.5(HPS3):c.2887+12T>A rs951761745
NM_032383.5(HPS3):c.2887+15T>G rs2472693752
NM_032383.5(HPS3):c.2888-12T>C rs2472706649
NM_032383.5(HPS3):c.2888-14T>C rs1298258552
NM_032383.5(HPS3):c.2888-15T>C rs763835209
NM_032383.5(HPS3):c.2888-18A>G
NM_032383.5(HPS3):c.2888-5C>T rs1725051925
NM_032383.5(HPS3):c.2888-7T>C rs2472706677
NM_032383.5(HPS3):c.2889A>G (p.Glu963=) rs1725052667
NM_032383.5(HPS3):c.2892A>T (p.Thr964=) rs2108198821
NM_032383.5(HPS3):c.2913A>G (p.Glu971=) rs2108198911
NM_032383.5(HPS3):c.2916A>G (p.Leu972=) rs1576718570
NM_032383.5(HPS3):c.2916A>T (p.Leu972=) rs1576718570
NM_032383.5(HPS3):c.2937T>C (p.Asn979=) rs1255690815
NM_032383.5(HPS3):c.2940T>A (p.Val980=) rs2108198994
NM_032383.5(HPS3):c.2976A>G (p.Pro992=) rs1374369504
NM_032383.5(HPS3):c.2985C>G (p.Leu995=) rs1725063053
NM_032383.5(HPS3):c.2988T>C (p.Tyr996=) rs1442783120
NM_032383.5(HPS3):c.3012T>C (p.Thr1004=)

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