ClinVar Miner

List of variants reported as likely pathogenic for disorder of melanin metabolism by Baylor Genetics

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 251
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200 0.00003
NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter) rs755841847 0.00003
NM_032383.5(HPS3):c.436G>T (p.Gly146Ter) rs752837159 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000195.5(HPS1):c.1940+2T>C rs972096803 0.00001
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter) rs1846158787 0.00001
NM_032383.5(HPS3):c.1861G>T (p.Glu621Ter) rs1488175163 0.00001
NM_032383.5(HPS3):c.2292+1G>A rs755724489 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2796+2T>C rs1476066527 0.00001
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10156del (p.Met3386fs)
NM_000081.4(LYST):c.1019del (p.Ser340fs)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10411dup (p.Glu3471fs)
NM_000081.4(LYST):c.10443_10454delinsCC (p.Val3482fs)
NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter)
NM_000081.4(LYST):c.1050del (p.Asn352fs)
NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)
NM_000081.4(LYST):c.10663_10691dup (p.Gln3564delinsHisLeuGlnTer)
NM_000081.4(LYST):c.10681C>T (p.Gln3561Ter)
NM_000081.4(LYST):c.10812del (p.Ile3604fs)
NM_000081.4(LYST):c.10813G>T (p.Glu3605Ter)
NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)
NM_000081.4(LYST):c.124del (p.Gly43fs)
NM_000081.4(LYST):c.1518T>G (p.Tyr506Ter)
NM_000081.4(LYST):c.1868del (p.Gln622_Leu623insTer)
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
NM_000081.4(LYST):c.2275del (p.Ser759fs)
NM_000081.4(LYST):c.2341_2342del (p.Leu781fs)
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.4006+2T>C
NM_000081.4(LYST):c.4116+1G>A
NM_000081.4(LYST):c.4117-2A>G
NM_000081.4(LYST):c.4324_4325del (p.Ser1442fs)
NM_000081.4(LYST):c.484C>T (p.Gln162Ter)
NM_000081.4(LYST):c.4858C>T (p.Gln1620Ter)
NM_000081.4(LYST):c.4863-1G>C
NM_000081.4(LYST):c.4969G>T (p.Glu1657Ter)
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5772G>A (p.Trp1924Ter)
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.6050T>G (p.Leu2017Ter)
NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter)
NM_000081.4(LYST):c.6720_6721del (p.His2240fs)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.6882-1G>T
NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter)
NM_000081.4(LYST):c.7045C>T (p.Gln2349Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.7781-1G>T
NM_000081.4(LYST):c.8358+2T>G
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8443G>T (p.Glu2815Ter)
NM_000081.4(LYST):c.8613-2A>T
NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter)
NM_000081.4(LYST):c.8801+1G>A
NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000081.4(LYST):c.9475del (p.Asp3159fs)
NM_000081.4(LYST):c.9620_9621dup (p.Tyr3208fs)
NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter)
NM_000081.4(LYST):c.9626del (p.Lys3209fs)
NM_000081.4(LYST):c.9784+1G>T
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.98_105del (p.Glu33fs)
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000195.5(HPS1):c.1065del (p.Asn356fs)
NM_000195.5(HPS1):c.1084del (p.Cys362fs)
NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs)
NM_000195.5(HPS1):c.1198del (p.Asp400fs)
NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter)
NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs)
NM_000195.5(HPS1):c.1335+1G>A
NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter)
NM_000195.5(HPS1):c.141dup (p.Ser48fs)
NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter) rs552340796
NM_000195.5(HPS1):c.1473dup (p.Ser492fs) rs1278834481
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.1519dup (p.Gln507fs)
NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs)
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) rs1591031929
NM_000195.5(HPS1):c.1771A>T (p.Arg591Ter)
NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs)
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter)
NM_000195.5(HPS1):c.1857+1G>A rs2136102397
NM_000195.5(HPS1):c.1925del (p.Gly642fs) rs2136083690
NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs)
NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs)
NM_000195.5(HPS1):c.2095dup (p.Leu699fs)
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.298G>T (p.Glu100Ter)
NM_000195.5(HPS1):c.322A>T (p.Lys108Ter)
NM_000195.5(HPS1):c.398+2T>G
NM_000195.5(HPS1):c.410del (p.Pro137fs)
NM_000195.5(HPS1):c.595_601del (p.Pro199fs)
NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer)
NM_000195.5(HPS1):c.668+1G>A
NM_000195.5(HPS1):c.669-1G>C
NM_000195.5(HPS1):c.721del (p.Val241fs)
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)
NM_000195.5(HPS1):c.769-14_834del
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.807del (p.Val270fs)
NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer) rs1938751649
NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs)
NM_000195.5(HPS1):c.847_848delinsTA (p.Gly283Ter)
NM_000195.5(HPS1):c.852del (p.Ser285fs) rs757883936
NM_000195.5(HPS1):c.904_917dup (p.Pro307fs)
NM_000195.5(HPS1):c.937+1G>A
NM_000195.5(HPS1):c.937G>A (p.Gly313Ser) rs962689701
NM_000195.5(HPS1):c.97_100del (p.Ser33fs) rs2136327710
NM_000195.5(HPS1):c.987+1G>A
NM_000195.5(HPS1):c.988-44_1023delinsT rs1591055649
NM_003664.5(AP3B1):c.1020del (p.Arg341fs)
NM_003664.5(AP3B1):c.1042G>T (p.Glu348Ter)
NM_003664.5(AP3B1):c.1206_1207del (p.Ser403fs)
NM_003664.5(AP3B1):c.1379_1382dup (p.Ser461fs)
NM_003664.5(AP3B1):c.1474-2A>G
NM_003664.5(AP3B1):c.1521_1522del (p.Cys507_Glu508delinsTer)
NM_003664.5(AP3B1):c.1852C>T (p.Gln618Ter)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.2078-1G>A
NM_003664.5(AP3B1):c.2297del (p.Asp766fs)
NM_003664.5(AP3B1):c.2398_2401del (p.Glu800fs)
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.2894+1G>T
NM_003664.5(AP3B1):c.2898del (p.Lys967fs)
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
NM_003664.5(AP3B1):c.543_553del (p.Asp181fs)
NM_003664.5(AP3B1):c.724dup (p.Val242fs)
NM_003664.5(AP3B1):c.942+1G>T
NM_022081.6(HPS4):c.1088_1101del (p.Leu363fs) rs773968140
NM_022081.6(HPS4):c.1090C>T (p.Gln364Ter)
NM_022081.6(HPS4):c.1156del (p.His386fs)
NM_022081.6(HPS4):c.132+1G>A
NM_022081.6(HPS4):c.132+1dup
NM_022081.6(HPS4):c.133-1G>A
NM_022081.6(HPS4):c.133-2A>G
NM_022081.6(HPS4):c.1330G>T (p.Glu444Ter)
NM_022081.6(HPS4):c.1361_1362del (p.Pro454fs)
NM_022081.6(HPS4):c.1409T>G (p.Leu470Ter)
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter) rs150216540
NM_022081.6(HPS4):c.1873C>T (p.Gln625Ter)
NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)
NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs) rs752827715
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_022081.6(HPS4):c.232A>T (p.Arg78Ter)
NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)
NM_022081.6(HPS4):c.32C>G (p.Ser11Ter)
NM_022081.6(HPS4):c.348dup (p.Asn117Ter)
NM_022081.6(HPS4):c.381_382del (p.Tyr127_Glu128delinsTer)
NM_022081.6(HPS4):c.41+1_41+3del
NM_022081.6(HPS4):c.412del (p.Glu138fs)
NM_022081.6(HPS4):c.42-2A>C
NM_022081.6(HPS4):c.42-2A>G
NM_022081.6(HPS4):c.446del (p.Asn149fs)
NM_022081.6(HPS4):c.44G>A (p.Trp15Ter)
NM_022081.6(HPS4):c.502-2A>T
NM_022081.6(HPS4):c.669+1G>A
NM_022081.6(HPS4):c.673_686del
NM_022081.6(HPS4):c.758_759dup (p.Glu254fs)
NM_022081.6(HPS4):c.834_865del (p.Asp278fs)
NM_022081.6(HPS4):c.844C>T (p.Gln282Ter)
NM_022081.6(HPS4):c.90_91insCCTT (p.Asp31delinsProTer)
NM_032383.5(HPS3):c.1055del (p.Gly352fs)
NM_032383.5(HPS3):c.1058_1059del (p.Tyr353fs)
NM_032383.5(HPS3):c.1102C>T (p.Gln368Ter)
NM_032383.5(HPS3):c.1120C>T (p.Gln374Ter)
NM_032383.5(HPS3):c.1123C>T (p.Gln375Ter)
NM_032383.5(HPS3):c.1154del (p.Val385fs)
NM_032383.5(HPS3):c.1175del (p.Gln392fs)
NM_032383.5(HPS3):c.1179T>A (p.Cys393Ter)
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs) rs1309602954
NM_032383.5(HPS3):c.1231dup (p.Asp411fs)
NM_032383.5(HPS3):c.1246-2A>T rs1282659169
NM_032383.5(HPS3):c.1246_1247insT (p.Ala416fs)
NM_032383.5(HPS3):c.1246dup
NM_032383.5(HPS3):c.1249del (p.Cys417fs)
NM_032383.5(HPS3):c.1385C>A (p.Ser462Ter) rs1330496818
NM_032383.5(HPS3):c.145C>T (p.Gln49Ter)
NM_032383.5(HPS3):c.148G>T (p.Glu50Ter)
NM_032383.5(HPS3):c.1500C>A (p.Tyr500Ter)
NM_032383.5(HPS3):c.1555_1595dup (p.Ala532_Leu533insPheThrPheSerValArgLeuIleCysTer) rs756611897
NM_032383.5(HPS3):c.157del (p.Gln53fs)
NM_032383.5(HPS3):c.1660del (p.Ser554fs)
NM_032383.5(HPS3):c.1678del (p.Asp560fs)
NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs) rs778152054
NM_032383.5(HPS3):c.1686C>A (p.Tyr562Ter) rs1292407171
NM_032383.5(HPS3):c.1824_1825del (p.Phe608fs)
NM_032383.5(HPS3):c.1842_1843del (p.Leu614_Tyr615insTer) rs1363245838
NM_032383.5(HPS3):c.1868_1872del (p.Asn623fs) rs749632423
NM_032383.5(HPS3):c.1873-1G>A
NM_032383.5(HPS3):c.207C>A (p.Tyr69Ter)
NM_032383.5(HPS3):c.2090_2094del (p.Met697fs) rs1032570128
NM_032383.5(HPS3):c.2106+1G>T
NM_032383.5(HPS3):c.2134G>T (p.Glu712Ter)
NM_032383.5(HPS3):c.2155C>T (p.Gln719Ter)
NM_032383.5(HPS3):c.217+2T>G rs1286892626
NM_032383.5(HPS3):c.2182G>T (p.Glu728Ter)
NM_032383.5(HPS3):c.2194dup (p.His732fs)
NM_032383.5(HPS3):c.219del (p.Asp74fs)
NM_032383.5(HPS3):c.2289del (p.Phe763fs)
NM_032383.5(HPS3):c.2343_2344del (p.Phe781fs) rs868868714
NM_032383.5(HPS3):c.2372_2373del (p.Pro791fs)
NM_032383.5(HPS3):c.2423G>A (p.Trp808Ter)
NM_032383.5(HPS3):c.2424del (p.Ile807_Trp808insTer)
NM_032383.5(HPS3):c.2440C>T (p.Gln814Ter)
NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter) rs373037058
NM_032383.5(HPS3):c.249_252del (p.Asn83fs) rs770108122
NM_032383.5(HPS3):c.2507T>G (p.Leu836Ter)
NM_032383.5(HPS3):c.2587C>T (p.Gln863Ter) rs2108173648
NM_032383.5(HPS3):c.2650del (p.Ser884fs)
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2766del (p.Pro921_Tyr922insTer)
NM_032383.5(HPS3):c.2788G>T (p.Glu930Ter)
NM_032383.5(HPS3):c.2796+1del rs2108184819
NM_032383.5(HPS3):c.2808G>A (p.Trp936Ter)
NM_032383.5(HPS3):c.2813_2814del (p.Lys938fs)
NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)
NM_032383.5(HPS3):c.2887+1G>A
NM_032383.5(HPS3):c.324dup (p.Ile109fs)
NM_032383.5(HPS3):c.371del (p.Gln124fs)
NM_032383.5(HPS3):c.403del (p.Ala135fs) rs748883997
NM_032383.5(HPS3):c.496_497dup (p.Asn167fs)
NM_032383.5(HPS3):c.502G>T (p.Glu168Ter)
NM_032383.5(HPS3):c.589dup (p.Tyr197fs)
NM_032383.5(HPS3):c.658dup (p.Arg220fs)
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) rs1363164647
NM_032383.5(HPS3):c.691C>T (p.Arg231Ter)
NM_032383.5(HPS3):c.706G>T (p.Glu236Ter)
NM_032383.5(HPS3):c.731C>A (p.Ser244Ter)
NM_032383.5(HPS3):c.745_746del (p.Ser248_Asp249insTer)
NM_032383.5(HPS3):c.823G>T (p.Glu275Ter)
NM_032383.5(HPS3):c.84_109del (p.Arg30fs)
NM_032383.5(HPS3):c.869_870del (p.Gln290fs)
NM_032383.5(HPS3):c.87del (p.Arg30fs)
NM_032383.5(HPS3):c.904dup (p.Ser302fs)
NM_032383.5(HPS3):c.970+1G>A
NM_032383.5(HPS3):c.995dup (p.Asn332fs)

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