ClinVar Miner

List of variants reported as benign for disorder of melanin metabolism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_022081.6(HPS4):c.*1613C>A rs3752589 0.88461
NM_022081.6(HPS4):c.-296T>C rs5761557 0.88308
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_022081.6(HPS4):c.-253C>T rs3747134 0.81120
NM_022081.5(HPS4):c.-662G>T rs968425 0.80578
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047 0.72384
NM_000275.3(OCA2):c.1183-4A>G rs10852218 0.71746
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404 0.59023
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) rs1800411 0.54427
NM_000275.3(OCA2):c.1365-15C>T rs12910433 0.51222
NM_000550.3(TYRP1):c.*908T>C rs1063380 0.50921
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_000550.3(TYRP1):c.*853A>C rs910 0.49606
NM_000195.5(HPS1):c.*706C>G rs3830020 0.48408
NM_000550.3(TYRP1):c.*123C>A rs683 0.48015
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419 0.47440
NM_000550.3(TYRP1):c.*404A>T rs2762464 0.46929
NM_000195.5(HPS1):c.*982T>C rs1739 0.45933
NM_000195.5(HPS1):c.*955A>G rs1737 0.45932
NM_022081.6(HPS4):c.*1962C>T rs5761533 0.44728
NM_000195.5(HPS1):c.*324T>C rs1061123 0.44036
NM_000195.5(HPS1):c.*272C>T rs1061115 0.43400
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_000195.5(HPS1):c.*452G>A rs701801 0.39309
NM_181507.2(HPS5):c.*464C>A rs1046611 0.35745
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_000195.5(HPS1):c.*1167G>A rs1061437 0.35147
NM_000195.5(HPS1):c.*1217T>C rs3830025 0.34581
NM_000195.5(HPS1):c.*1215C>T rs3830024 0.34580
NM_181507.2(HPS5):c.*475C>T rs1046615 0.33956
NM_183235.3(RAB27A):c.*1926T>A rs8028801 0.33811
NM_181507.2(HPS5):c.*299C>T rs12419588 0.33793
NM_181507.2(HPS5):c.*300T>C rs12416821 0.33782
NM_183235.3(RAB27A):c.*852C>T rs3179664 0.33294
NM_003664.5(AP3B1):c.*107T>A rs11552314 0.29901
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_183235.3(RAB27A):c.*1931T>C rs6493770 0.27860
NM_000195.5(HPS1):c.-51C>A rs1804689 0.27683
NM_183235.2(RAB27A):c.*2554C>T rs28564077 0.27672
NM_183235.3(RAB27A):c.*14C>T rs1050931 0.27464
NM_183235.3(RAB27A):c.*1662A>T rs1061823 0.27450
NM_183235.3(RAB27A):c.*936C>A rs1061870 0.27449
NM_183235.3(RAB27A):c.*949A>G rs1061873 0.27447
NM_183235.3(RAB27A):c.*1594A>G rs1061821 0.27431
NM_183235.3(RAB27A):c.*1647T>G rs1061822 0.27431
NM_183235.3(RAB27A):c.*1742A>G rs1061824 0.27430
NM_183235.3(RAB27A):c.*1427G>A rs1061875 0.27307
NM_183235.3(RAB27A):c.*1418T>A rs1061874 0.27298
NM_183235.3(RAB27A):c.*2007G>A rs6493769 0.27179
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_000195.5(HPS1):c.1599-15A>G rs2296435 0.21496
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_181507.2(HPS5):c.3058+9A>G rs2049129 0.20713
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) rs12592307 0.19938
NM_024747.6(HPS6):c.*178T>G rs3816 0.19913
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_181507.2(HPS5):c.*804C>T rs1046628 0.17195
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_181507.2(HPS5):c.1165-15C>A rs7128146 0.13983
NM_181507.1(HPS5):c.-251C>A rs4150530 0.13814
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017 0.13791
NM_000081.4(LYST):c.153A>C (p.Gly51=) rs11464 0.13219
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11672
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_183235.3(RAB27A):c.*1392A>C rs12907749 0.11078
NM_183235.3(RAB27A):c.*2067C>G rs7168226 0.10411
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243 0.07919
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
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_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) rs26722 0.05621
NM_000275.3(OCA2):c.2058A>C (p.Ala686=) rs1800416 0.05476
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407 0.04917
NM_000550.3(TYRP1):c.259C>A (p.Arg87=) rs34509359 0.04615
NM_000195.5(HPS1):c.*694C>T rs7075480 0.04558
NM_000550.3(TYRP1):c.729T>C (p.Ser243=) rs35866166 0.04447
NM_000195.5(HPS1):c.987+13T>C rs12571249 0.04438
NM_000195.5(HPS1):c.*473G>A rs3830019 0.04437
NM_000081.4(LYST):c.574T>G (p.Leu192Val) rs7524261 0.04386
NM_000550.3(TYRP1):c.-161G>T rs7867043 0.04161
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_000081.4(LYST):c.3050G>A (p.Ser1017Asn) rs10465613 0.03661
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_022081.6(HPS4):c.*1250C>T rs7291576 0.02974
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_181507.2(HPS5):c.*1068T>A rs112456564 0.02934
NM_181507.2(HPS5):c.*443T>A rs74602396 0.02922
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241 0.02388
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_000275.3(OCA2):c.*50A>G rs7175266 0.02314
NM_032383.5(HPS3):c.-70T>C rs13089410 0.02214
NM_183235.3(RAB27A):c.*731G>T rs76097718 0.02129
NM_181507.2(HPS5):c.*702A>T rs79086536 0.01805
NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr) rs1800417 0.01681
NM_183235.3(RAB27A):c.-142-5A>G rs61436564 0.01642
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01605
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405 0.01593
NM_000372.5(TYR):c.114G>A (p.Pro38=) rs1939261 0.01561
NM_000372.5(TYR):c.178C>T (p.Leu60=) rs1939260 0.01556
NM_183235.3(RAB27A):c.*842G>A rs59982153 0.01444
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) rs1800414 0.01432
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928 0.01348
NM_000195.5(HPS1):c.-105-9C>T rs2296429 0.01268
NM_183235.3(RAB27A):c.*2349A>G rs76970799 0.01147
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_000275.3(OCA2):c.1887G>T (p.Val629=) rs1800415 0.01098
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_003664.5(AP3B1):c.2810-4C>T rs115340604 0.01015
NM_000195.5(HPS1):c.*460C>T rs114794063 0.01003
NM_024747.6(HPS6):c.1764G>A (p.Gln588=) rs145597717 0.00963
NM_181507.2(HPS5):c.-142C>T rs4150528 0.00903
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00883
NM_000096.4(CP):c.*509A>C rs13098532 0.00867
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_000275.3(OCA2):c.1752C>T (p.His584=) rs151225947 0.00803
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) rs34010619 0.00755
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_181507.1(HPS5):c.-250G>T rs4150529 0.00728
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_183235.3(RAB27A):c.*387A>G rs73407873 0.00697
NM_003664.5(AP3B1):c.*379A>G rs115124715 0.00669
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) rs36078476 0.00592
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
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_000096.4(CP):c.*474T>C rs34936395 0.00559
NM_000195.5(HPS1):c.*916G>A rs114082441 0.00522
NM_181507.2(HPS5):c.-91C>G rs4150527 0.00513
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_183235.3(RAB27A):c.*472A>C rs116723038 0.00475
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_183235.3(RAB27A):c.*1013T>C rs190724892 0.00420
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_024747.6(HPS6):c.398C>T (p.Ala133Val) rs199816481 0.00315
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223 0.00297
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041 0.00234
NM_022081.6(HPS4):c.*1687A>G rs3752588 0.00207
NM_000195.5(HPS1):c.*1326C>A rs146022441 0.00195
NM_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) rs1800403 0.00182
NM_003664.5(AP3B1):c.*44G>A rs182487478 0.00174
NM_000550.3(TYRP1):c.98T>C (p.Val33Ala) rs146838872 0.00128
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_024747.6(HPS6):c.1692C>T (p.Pro564=) rs147449083 0.00070
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179 0.00056
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659 0.00028
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) rs150335311 0.00019
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088 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_000081.4(LYST):c.*1275T>C
NM_000081.4(LYST):c.*1499G>T
NM_000081.4(LYST):c.*1723A>G
NM_000081.4(LYST):c.*446T>C
NM_000081.4(LYST):c.*685G>T
NM_000081.4(LYST):c.*725G>A
NM_000081.4(LYST):c.-134G>C
NM_000096.4(CP):c.*828dup rs35907111
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000275.3(OCA2):c.2208G>A (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg) rs2305253
NM_000550.3(TYRP1):c.*294AAGT[1] rs71329877
NM_000550.3(TYRP1):c.*468ATTA[1] rs71329878
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_012388.4(BLOC1S6):c.*2818ACAA[6] rs376870196
NM_022081.6(HPS4):c.*1229CG[4] rs10573454
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.741T>A (p.Pro247=) rs35126034
NM_024747.6(HPS6):c.444C>G (p.Ala148=) rs533784966
NM_032383.5(HPS3):c.2887+19dup rs397710976

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