ClinVar Miner

List of variants reported as pathogenic for disorder of melanin metabolism

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 668
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00021
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) rs104894130 0.00021
NM_001305581.2(LRMDA):c.150dup (p.Ala51fs) rs587776953 0.00020
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_016180.5(SLC45A2):c.264del (p.Gly89fs) rs775387808 0.00011
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253 0.00009
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_001305581.2(LRMDA):c.664C>T (p.Arg222Ter) rs587776952 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778 0.00006
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys) rs201789348 0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_000275.3(OCA2):c.2338+1G>T rs770635415 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) rs147736385 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter) rs780433845 0.00004
NM_001922.5(DCT):c.1407G>A (p.Trp469Ter) rs764655568 0.00004
NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu) rs530738094 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164 0.00004
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000275.3(OCA2):c.157del (p.Arg53fs) rs758894409 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360 0.00003
NM_001922.5(DCT):c.118T>A (p.Cys40Ser) rs370729240 0.00003
NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter) rs200122644 0.00003
NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter) rs755841847 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_205850.3(SLC24A5):c.641del (p.Leu214fs) rs772398324 0.00003
NM_212550.5(BLOC1S3):c.131C>A (p.Ser44Ter) rs281865115 0.00003
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000195.5(HPS1):c.398+2T>C rs1486224265 0.00002
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) rs281865080 0.00002
NM_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178 0.00002
NM_000275.3(OCA2):c.440dup (p.Ser148fs) rs1057518192 0.00002
NM_000275.3(OCA2):c.565_566del (p.Leu189fs) rs1312967591 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.1037-2A>G rs748901196 0.00002
NM_000372.5(TYR):c.132T>A (p.Ser44Arg) rs755700581 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363 0.00002
NM_016180.5(SLC45A2):c.304C>T (p.Arg102Trp) rs760331451 0.00002
NM_024101.7(MLPH):c.70C>T (p.Arg24Ter) rs140470472 0.00002
NM_032383.5(HPS3):c.2589+1G>T rs281865095 0.00002
NM_181507.2(HPS5):c.543del (p.Gln181fs) rs755827664 0.00002
NM_183235.3(RAB27A):c.227C>T (p.Ala76Val) rs766632505 0.00002
NM_183235.3(RAB27A):c.239+1G>T rs761810607 0.00002
NM_183235.3(RAB27A):c.239G>C (p.Arg80Thr) rs765369750 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000081.4(LYST):c.1507C>T (p.Arg503Ter) rs1558282769 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) rs1185127836 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) rs886077189 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter) rs1846158787 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000275.3(OCA2):c.1044+1G>T rs185504549 0.00001
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171 0.00001
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) rs763819379 0.00001
NM_000275.3(OCA2):c.1842+1G>T rs387906240 0.00001
NM_000275.3(OCA2):c.2225dup (p.Phe744fs) rs2036555943 0.00001
NM_000275.3(OCA2):c.807+1G>T rs763219039 0.00001
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557 0.00001
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.649del (p.Arg217fs) rs61754364 0.00001
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000372.5(TYR):c.71G>A (p.Cys24Tyr) rs373333305 0.00001
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763 0.00001
NM_000372.5(TYR):c.865T>C (p.Cys289Arg) rs1468041471 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_001382347.1(MYO5A):c.2332C>T (p.Arg778Ter) rs764371254 0.00001
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482 0.00001
NM_012388.4(BLOC1S6):c.335dup (p.His112fs) rs762974622 0.00001
NM_016180.5(SLC45A2):c.1280T>C (p.Leu427Pro) rs759043037 0.00001
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620 0.00001
NM_016180.5(SLC45A2):c.277G>A (p.Asp93Asn) rs751978811 0.00001
NM_016180.5(SLC45A2):c.533_534dup (p.Gly179fs) rs757344228 0.00001
NM_024101.7(MLPH):c.103C>T (p.Arg35Trp) rs119473031 0.00001
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln) rs786205551 0.00001
NM_024747.6(HPS6):c.1114C>T (p.Arg372Ter) rs776754431 0.00001
NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter) rs281865112 0.00001
NM_024747.6(HPS6):c.2038C>T (p.Gln680Ter) rs1131692333 0.00001
NM_024747.6(HPS6):c.223C>T (p.Gln75Ter) rs281865107 0.00001
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu) rs1478574193 0.00001
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2482-2A>G rs397507168 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032383.5(HPS3):c.728_729insA (p.Ser244fs) rs760577035 0.00001
NM_181507.2(HPS5):c.2593C>T (p.Arg865Ter) rs281865104 0.00001
NM_181507.2(HPS5):c.719G>C (p.Arg240Pro) rs764296457 0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 0.00001
NM_183235.3(RAB27A):c.598C>T (p.Arg200Ter) rs757849893 0.00001
11p15.1 deletion
GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0
MYO5A, 47-BP INS, NT4634
NC_000001.10:g.(235914663_235915304)_(235916575_235918777)del
NC_000001.10:g.(?_235275379)_(236899040_?)del
NC_000001.10:g.(?_235543365)_(235922919_?)del
NC_000001.10:g.(?_235826240)_(235976381_?)del
NC_000001.10:g.(?_235827745)_(235827941_?)del
NC_000001.10:g.(?_235840371)_(235860592_?)del
NC_000001.10:g.(?_235850229)_(235872628_?)del
NC_000001.10:g.(?_235937122)_(235944375_?)del
NC_000001.11:g.(?_235662920)_(235782107_?)del
NC_000005.10:g.(?_78089373)_(78141339_?)del
NC_000005.9:g.(?_76115008)_(78281071_?)del
NC_000005.9:g.(?_77590256)_(77590403_?)del
NC_000011.9:g.(88911941_88911969)_(88961139_89017940)del
NC_000015.10:g.(?_55223869)_(55224032_?)del
NC_000015.10:g.(?_55223869)_(55234954_?)del
NC_000015.10:g.(?_55228589)_(55234954_?)del
NC_000015.10:g.(?_55234762)_(55234954_?)del
NC_000015.10:g.28018399_28018559del rs1555375711
NC_000015.10:g.45592135del
NC_000015.10:g.55224013del
NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del
NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del
NC_000015.9:g.(?_45884313)_(45898712_?)del
NC_000015.9:g.(?_55497685)_(55527152_?)del
NC_000015.9:g.(?_55520787)_(55522704_?)del
NC_000015.9:g.(?_55522579)_(55522704_?)del
NC_000015.9:g.(?_55526960)_(55613608_?)del
NC_000015.9:g.55514530_55552423dup
NC_000023.9:g.9688757-?_9693917+?del
NG_009103.1:g.(13486_?)_(?_81610)del
NG_009846.1:g.103171_225796del
NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter)
NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)
NM_000081.4(LYST):c.10083del (p.Phe3362fs)
NM_000081.4(LYST):c.10153G>T (p.Gly3385Ter)
NM_000081.4(LYST):c.10206del (p.Thr3402_Met3403insTer)
NM_000081.4(LYST):c.10269_10275del (p.Gly3424fs)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10360G>T (p.Glu3454Ter)
NM_000081.4(LYST):c.10405del (p.Trp3469fs)
NM_000081.4(LYST):c.10406G>A (p.Trp3469Ter)
NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter)
NM_000081.4(LYST):c.10568_10569del (p.Val3523fs)
NM_000081.4(LYST):c.10601C>A (p.Ser3534Ter)
NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)
NM_000081.4(LYST):c.10654del (p.Gln3552fs)
NM_000081.4(LYST):c.106G>T (p.Glu36Ter)
NM_000081.4(LYST):c.10801-91T>G
NM_000081.4(LYST):c.1082_1083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCTAGAGCAGCTTT (p.Leu361delinsPhePhePhePhePhePhePheXaaXaaXaaXaaValPheCysValAlaHisAlaGlySerCysArgProGluLeuPheLeuPheGlyHisLeuGlySerSerLeuTer)
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
NM_000081.4(LYST):c.11031_11032del (p.Cys3677_Asp3678delinsTer)
NM_000081.4(LYST):c.1189A>T (p.Arg397Ter)
NM_000081.4(LYST):c.1202T>G (p.Leu401Ter)
NM_000081.4(LYST):c.1303G>T (p.Glu435Ter)
NM_000081.4(LYST):c.130C>T (p.Gln44Ter)
NM_000081.4(LYST):c.1361G>A (p.Trp454Ter)
NM_000081.4(LYST):c.1391del (p.Glu464fs)
NM_000081.4(LYST):c.1406T>A (p.Leu469Ter)
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.1492A>T (p.Arg498Ter)
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.1592dup (p.Asn531fs)
NM_000081.4(LYST):c.1599dup (p.Glu534Ter)
NM_000081.4(LYST):c.1758_1761dup (p.Pro588fs)
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
NM_000081.4(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.192+2T>C
NM_000081.4(LYST):c.2015dup (p.Tyr672Ter)
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
NM_000081.4(LYST):c.2063G>A (p.Trp688Ter)
NM_000081.4(LYST):c.2089C>T (p.Gln697Ter)
NM_000081.4(LYST):c.2158C>T (p.Gln720Ter)
NM_000081.4(LYST):c.236_237del (p.Leu79fs)
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000081.4(LYST):c.2437C>T (p.Arg813Ter)
NM_000081.4(LYST):c.244dup (p.Leu82fs)
NM_000081.4(LYST):c.2496del (p.Asp833fs)
NM_000081.4(LYST):c.2540del (p.Lys847fs)
NM_000081.4(LYST):c.2730_2734del (p.Ser910fs)
NM_000081.4(LYST):c.2832_2833del (p.Leu946fs)
NM_000081.4(LYST):c.2832del (p.Ser945fs)
NM_000081.4(LYST):c.2896_2897del (p.Met966fs)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.3159del (p.Ser1054fs)
NM_000081.4(LYST):c.3301_3302insCAGGATTTAAACAGAATTTCTCAACCTAAGAGAACTATGAAGGAAGATTTATTATCTTTGGCTATAA (p.Gln1101delinsProGlyPheLysGlnAsnPheSerThrTer)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3574G>T (p.Glu1192Ter)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3736_3737del (p.Glu1246fs)
NM_000081.4(LYST):c.3770T>A (p.Leu1257Ter)
NM_000081.4(LYST):c.3817_3821dup (p.Glu1275fs)
NM_000081.4(LYST):c.3910del (p.Glu1304fs)
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.421C>T (p.Arg141Ter)
NM_000081.4(LYST):c.4264del (p.Ala1422fs)
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter) rs1468055437
NM_000081.4(LYST):c.4322_4325del (p.Glu1441fs)
NM_000081.4(LYST):c.433C>T (p.Arg145Ter)
NM_000081.4(LYST):c.4433G>A (p.Trp1478Ter)
NM_000081.4(LYST):c.4434G>A (p.Trp1478Ter)
NM_000081.4(LYST):c.4469del (p.Thr1490fs)
NM_000081.4(LYST):c.4479del (p.Gly1494fs)
NM_000081.4(LYST):c.4498_4502del (p.Arg1500fs)
NM_000081.4(LYST):c.465_466del (p.Asp157fs)
NM_000081.4(LYST):c.4900A>T (p.Lys1634Ter)
NM_000081.4(LYST):c.4978C>T (p.Gln1660Ter)
NM_000081.4(LYST):c.5351_5352insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGAGCATCTT (p.Leu1784delinsPhePhePhePhePhePhePheXaaXaaXaaXaaSerTer)
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
NM_000081.4(LYST):c.5519C>G (p.Ser1840Ter)
NM_000081.4(LYST):c.575del (p.Phe191_Leu192insTer)
NM_000081.4(LYST):c.575dup (p.Leu192fs)
NM_000081.4(LYST):c.5785C>T (p.Gln1929Ter)
NM_000081.4(LYST):c.5866C>T (p.Gln1956Ter)
NM_000081.4(LYST):c.5881C>T (p.Gln1961Ter)
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.6077dup (p.Tyr2026Ter)
NM_000081.4(LYST):c.6078C>G (p.Tyr2026Ter)
NM_000081.4(LYST):c.6159_6160del (p.Met2053fs)
NM_000081.4(LYST):c.6187del (p.Arg2063fs)
NM_000081.4(LYST):c.6283C>T (p.Gln2095Ter)
NM_000081.4(LYST):c.6397C>T (p.Gln2133Ter)
NM_000081.4(LYST):c.6427C>T (p.Gln2143Ter)
NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter)
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)
NM_000081.4(LYST):c.6750dup (p.Pro2251fs)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.713_714insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGGCGCGGACGGGGAGCCGGGCCCGGAGCCGCCGTCACGGCCGCGACCGCCCCGCGGGGCCGGCCTGGGCCGCGCTCAAACACTGACATTTT (p.Ile237_Leu238insPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgGlyAlaGlyProGlyAlaAlaValThrAlaAlaThrAlaProArgGlyArgProGlyProArgSerAsnThrAspIle)
NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter)
NM_000081.4(LYST):c.7499del (p.Ile2500fs)
NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter)
NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter)
NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter)
NM_000081.4(LYST):c.8122dup (p.Tyr2708fs)
NM_000081.4(LYST):c.8156C>G (p.Ser2719Ter)
NM_000081.4(LYST):c.8221C>T (p.Arg2741Ter)
NM_000081.4(LYST):c.8284_8285del (p.Lys2762fs)
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.8373_8376del (p.Leu2791fs)
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8536-1G>A
NM_000081.4(LYST):c.8668_8669dup (p.Thr2891fs)
NM_000081.4(LYST):c.8682del (p.Ser2895fs)
NM_000081.4(LYST):c.8691_8692del (p.Gln2898fs)
NM_000081.4(LYST):c.8760del (p.Ser2920fs)
NM_000081.4(LYST):c.8802-2A>G
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_000081.4(LYST):c.8973C>G (p.Tyr2991Ter)
NM_000081.4(LYST):c.9106+1G>T
NM_000081.4(LYST):c.9143del (p.Ser3048fs)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.934del (p.Ser312fs)
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
NM_000081.4(LYST):c.9434_9435dup (p.Leu3146fs)
NM_000081.4(LYST):c.9449del (p.Asn3150fs)
NM_000081.4(LYST):c.9463C>T (p.Arg3155Ter)
NM_000081.4(LYST):c.9600del (p.Glu3201fs)
NM_000081.4(LYST):c.9612T>G (p.Tyr3204Ter)
NM_000081.4(LYST):c.973dup (p.Arg325fs)
NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter)
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.9893del (p.Phe3298fs) rs80338668
NM_000081.4(LYST):c.9961dup (p.Val3321fs)
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000195.5(HPS1):c.1090dup (p.Leu364fs) rs2136156603
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg) rs1591045080
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter) rs748888649
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.1599-16T>G
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) rs1591031929
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) rs1591120765
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) rs281865090
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs) rs1846922474
NM_000195.5(HPS1):c.533del (p.Gln178fs)
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter) rs747607498
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter) rs748939090
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs) rs281865081
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.12_36del (p.Leu6fs) rs1057518787
NM_000273.3(GPR143):c.216_232del (p.Ala73fs) rs62645741
NM_000273.3(GPR143):c.360+2T>C rs2146700764
NM_000273.3(GPR143):c.361-2A>C rs2146699664
NM_000273.3(GPR143):c.36del (p.Thr13fs)
NM_000273.3(GPR143):c.370C>T (p.Gln124Ter)
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) rs58933950
NM_000273.3(GPR143):c.548+2T>A rs2083438278
NM_000273.3(GPR143):c.548+2T>C rs2083438278
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) rs137852297
NM_000273.3(GPR143):c.73C>T (p.Gln25Ter) rs2146705998
NM_000273.3(GPR143):c.756_767+2del rs281865183
NM_000273.3(GPR143):c.933_934dup (p.Gly312fs)
NM_000275.2(OCA2):c.647-?_807+?del
NM_000275.2(OCA2):c.647-?_890+?del
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs) rs1595774445
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) rs1555392037
NM_000275.3(OCA2):c.1240-1G>T
NM_000275.3(OCA2):c.1248dup (p.Leu417fs)
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000275.3(OCA2):c.1365-1G>A rs2140965742
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp)
NM_000275.3(OCA2):c.1450_1451insCTGCCCTGACA (p.Ile484fs)
NM_000275.3(OCA2):c.1637-2A>G rs1595717218
NM_000275.3(OCA2):c.171del (p.Gln58fs) rs1555391997
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro)
NM_000275.3(OCA2):c.1841dup (p.His615fs)
NM_000275.3(OCA2):c.1842+2T>C rs1226502822
NM_000275.3(OCA2):c.1951+1215G>T
NM_000275.3(OCA2):c.1951+1G>A
NM_000275.3(OCA2):c.1951+1G>C rs752727398
NM_000275.3(OCA2):c.1960del (p.Ala654fs) rs387906241
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs) rs1595660890
NM_000275.3(OCA2):c.2055del (p.Phe685fs) rs772595552
NM_000275.3(OCA2):c.2055dup (p.Ala686fs)
NM_000275.3(OCA2):c.2080-1G>A rs1555422232
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) rs771620099
NM_000275.3(OCA2):c.2195C>G (p.Ser732Ter)
NM_000275.3(OCA2):c.2244+1G>A rs868098120
NM_000275.3(OCA2):c.2244+2T>G
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) rs987780496
NM_000275.3(OCA2):c.2433-22889T>A
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.646+1G>T rs1046172334
NM_000275.3(OCA2):c.759del (p.Glu253fs)
NM_000275.3(OCA2):c.808-3C>G
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer) rs747395624
NM_000283.4(PDE6B):c.2395C>T (p.Arg799Ter) rs970990957
NM_000372.5(TYR):c.1036G>A (p.Gly346Arg) rs1013801316
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1037G>T (p.Gly346Val) rs773970123
NM_000372.5(TYR):c.1056del (p.Gly353_Ile354insTer) rs1943996205
NM_000372.5(TYR):c.1105del (p.Tyr369fs)
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.1168C>G (p.His390Asp) rs62645914
NM_000372.5(TYR):c.1177del (p.Val393fs)
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1200G>A (p.Trp400Ter)
NM_000372.5(TYR):c.1200G>T (p.Trp400Cys)
NM_000372.5(TYR):c.1237del (p.Glu413fs) rs1565423615
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1267del (p.Glu423fs) rs1565423674
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) rs1590902378
NM_000372.5(TYR):c.1322del (p.Ser441fs)
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1456del (p.Ala486fs) rs1590909462
NM_000372.5(TYR):c.149C>G (p.Ser50Ter) rs61753181
NM_000372.5(TYR):c.216del (p.Val74fs) rs1565386406
NM_000372.5(TYR):c.229C>G (p.Arg77Gly)
NM_000372.5(TYR):c.255del (p.Phe84_Tyr85insTer)
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) rs137854890
NM_000372.5(TYR):c.272G>C (p.Cys91Ser)
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) rs1565386582
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.425A>T (p.Lys142Met)
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.593T>C (p.Ile198Thr)
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.655G>A (p.Glu219Lys) rs747995722
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.70T>C (p.Cys24Arg)
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.5(TYR):c.773_774del (p.Thr258fs) rs1374400414
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.826T>C (p.Cys276Arg)
NM_000372.5(TYR):c.859dup (p.Ser287fs) rs2135253148
NM_000372.5(TYR):c.867C>A (p.Cys289Ter)
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.895C>T (p.Arg299Cys) rs61754374
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.976C>T (p.Gln326Ter) rs540911439
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer) rs387906561
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000550.3(TYRP1):c.913+2T>G rs1394455331
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) rs886041382
NM_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs) rs879255646
NM_001382347.1(MYO5A):c.2012+1G>T rs769021352
NM_001382347.1(MYO5A):c.2110C>T (p.Gln704Ter) rs2141121140
NM_001382347.1(MYO5A):c.4239+871_4315-331del
NM_001382347.1(MYO5A):c.463C>T (p.Arg155Ter) rs2043479059
NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer) rs1882493359
NM_001922.5(DCT):c.176G>T (p.Gly59Val) rs1885298359
NM_001922.5(DCT):c.183C>G (p.Cys61Trp) rs1885297366
NM_001922.5(DCT):c.212G>A (p.Trp71Ter)
NM_001922.5(DCT):c.876C>A (p.Tyr292Ter) rs201692579
NM_003664.4(AP3B1):c.1839_1842delTAGA
NM_003664.5(AP3B1):c.1101dup (p.Phe368fs) rs1744118616
NM_003664.5(AP3B1):c.1168_1230del (p.Leu390_Gln410del)
NM_003664.5(AP3B1):c.1255C>T (p.Gln419Ter)
NM_003664.5(AP3B1):c.1286del (p.Gly429fs)
NM_003664.5(AP3B1):c.1363+1G>A
NM_003664.5(AP3B1):c.1408del (p.Gln470fs)
NM_003664.5(AP3B1):c.1473+6T>C rs1000881595
NM_003664.5(AP3B1):c.1474-7072_1650+921del
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs) rs1753129765
NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.5(AP3B1):c.1754del (p.Val585fs) rs869312836
NM_003664.5(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter)
NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs)
NM_003664.5(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
NM_003664.5(AP3B1):c.237_238del (p.Phe80fs) rs2112518616
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.2675_2679del (p.Pro892fs)
NM_003664.5(AP3B1):c.2694_2712del (p.Met899fs) rs2112100310
NM_003664.5(AP3B1):c.2702C>G (p.Ser901Cys) rs869312835
NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter)
NM_003664.5(AP3B1):c.2738del (p.Lys913fs) rs2112100217
NM_003664.5(AP3B1):c.2757del (p.Ile919fs) rs2112100189
NM_003664.5(AP3B1):c.2801del (p.Asn934fs) rs2112100020
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
NM_003664.5(AP3B1):c.624dup (p.Met209fs)
NM_003664.5(AP3B1):c.716G>A (p.Trp239Ter) rs869312837
NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)
NM_003664.5(AP3B1):c.778del (p.Trp260fs)
NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter) rs1745947620
NM_003664.5(AP3B1):c.904A>T (p.Arg302Ter) rs121908905
NM_012388.4(BLOC1S6):c.148G>T (p.Glu50Ter)
NM_012388.4(BLOC1S6):c.157del (p.Ala53fs)
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.203_207del (p.Lys68fs)
NM_012388.4(BLOC1S6):c.245T>A (p.Leu82Ter)
NM_012388.4(BLOC1S6):c.261dup (p.Glu88fs)
NM_012388.4(BLOC1S6):c.285_286dup (p.His96fs)
NM_012388.4(BLOC1S6):c.296T>A (p.Leu99Ter)
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)
NM_012388.4(BLOC1S6):c.351dup (p.Ile118fs)
NM_012388.4(BLOC1S6):c.7_22dup (p.Ser8fs)
NM_012388.4(BLOC1S6):c.88del (p.Ser30fs)
NM_012388.4(BLOC1S6):c.89del (p.Ser30fs)
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1121del (p.Leu374fs) rs730880271
NM_016180.5(SLC45A2):c.113A>G (p.His38Arg)
NM_016180.5(SLC45A2):c.1157-765C>G
NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs) rs896495198
NM_016180.5(SLC45A2):c.1266C>G (p.Tyr422Ter)
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs) rs759411189
NM_016180.5(SLC45A2):c.1368+1G>T rs1294369944
NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)
NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs) rs1057518722
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter) rs562624441
NM_016180.5(SLC45A2):c.386-1G>A rs1753106609
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) rs121912621
NM_016180.5(SLC45A2):c.478G>C (p.Asp160His) rs760780597
NM_016180.5(SLC45A2):c.563-1G>A rs730880270
NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del) rs387906318
NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter) rs116887602
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1152del (p.Gly385fs) rs2146555632
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter) rs372020804
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) rs281865100
NM_022081.6(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.6(HPS4):c.45G>A (p.Trp15Ter)
NM_022081.6(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.6(HPS4):c.57del (p.Leu20fs) rs281865097
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_024101.7(MLPH):c.292G>T (p.Glu98Ter)
NM_024101.7(MLPH):c.987del (p.Lys330fs) rs786205641
NM_024747.6(HPS6):c.1030G>T (p.Glu344Ter) rs2067971306
NM_024747.6(HPS6):c.1065dup (p.Leu356fs) rs1564899492
NM_024747.6(HPS6):c.1411C>T (p.Gln471Ter) rs1590263662
NM_024747.6(HPS6):c.155del (p.Val52fs) rs1590262450
NM_024747.6(HPS6):c.1624del (p.Asp542fs) rs1590263807
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs) rs281865113
NM_024747.6(HPS6):c.1865_1866del (p.Leu622fs) rs281865114
NM_024747.6(HPS6):c.1898del (p.Pro633fs) rs1131692332
NM_024747.6(HPS6):c.1942C>T (p.Gln648Ter)
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024747.6(HPS6):c.455C>G (p.Ser152Ter)
NM_024747.6(HPS6):c.60_64dup (p.Leu22fs) rs752399257
NM_024747.6(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.6(HPS6):c.913C>T (p.Gln305Ter) rs281865110
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs) rs752074481
NM_032122.5(DTNBP1):c.177G>A (p.Trp59Ter) rs727502866
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1291del (p.Leu431fs)
NM_032383.5(HPS3):c.1561del (p.Leu521fs) rs2108158577
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.1631del (p.Lys544fs)
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2424G>A (p.Trp808Ter)
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.248dup (p.Asn83fs)
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2766T>G (p.Tyr922Ter)
NM_032383.5(HPS3):c.2805G>A (p.Trp935Ter)
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) rs1576708708
NM_032383.5(HPS3):c.319C>T (p.Arg107Ter)
NM_032383.5(HPS3):c.7C>T (p.Gln3Ter)
NM_032383.5(HPS3):c.851_852del (p.Arg284fs) rs750685598
NM_032383.5(HPS3):c.868C>T (p.Gln290Ter)
NM_032383.5(HPS3):c.882T>G (p.Tyr294Ter)
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) rs763305108
NM_181507.2(HPS5):c.107del (p.Lys36fs) rs1554948134
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.1900del (p.Glu634fs) rs1131692146
NM_181507.2(HPS5):c.2026_2029del (p.Val676fs) rs281865103
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter) rs779921624
NM_181507.2(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.2(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.2(HPS5):c.2624del (p.Leu875fs) rs281865105
NM_181507.2(HPS5):c.2750_2751del (p.Glu917fs) rs1131692151
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs) rs886041723
NM_181507.2(HPS5):c.3058+3A>G rs113304476
NM_181507.2(HPS5):c.3096_3098del (p.Leu1033del) rs753928208
NM_181507.2(HPS5):c.739dup (p.Glu247fs)
NM_181507.2(HPS5):c.818_822del (p.Thr273fs) rs1131692147
NM_181507.2(HPS5):c.82dup (p.Leu28fs)
NM_181507.2(HPS5):c.879dup (p.Lys294fs) rs281865101
NM_181507.2(HPS5):c.888dup (p.His297fs)
NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile) rs2140989874
NM_183235.3(RAB27A):c.137T>G (p.Phe46Cys) rs1896185846
NM_183235.3(RAB27A):c.147_148del (p.Arg50fs)
NM_183235.3(RAB27A):c.148del (p.Arg50fs)
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.240-2A>C
NM_183235.3(RAB27A):c.240-5_242del rs1895912791
NM_183235.3(RAB27A):c.251dup (p.Leu84fs) rs1895911610
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.335del (p.Asn112fs) rs756644243
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.377del (p.Pro126fs) rs1895696380
NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro) rs104894498
NM_183235.3(RAB27A):c.400A>G (p.Lys134Glu) rs2140958637
NM_183235.3(RAB27A):c.423_424del (p.Arg141fs) rs766575263
NM_183235.3(RAB27A):c.439G>T (p.Glu147Ter) rs75258234
NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro) rs104894499
NM_183235.3(RAB27A):c.460A>T (p.Lys154Ter) rs2140958324
NM_183235.3(RAB27A):c.465T>A (p.Tyr155Ter)
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.467+1G>T
NM_183235.3(RAB27A):c.467+3_467+6del
NM_183235.3(RAB27A):c.467+5G>A rs2140958268
NM_183235.3(RAB27A):c.514C>T (p.Gln172Ter)
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs) rs1595700039
NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)
NM_201280.2:c.196-678_384+3483del
NM_201280.3(BLOC1S5):c.2T>G (p.Met1Arg)
NM_201280.3(BLOC1S5):c.345del (p.Val116fs) rs1763106978
NM_205850.3(SLC24A5):c.1361dup (p.Leu454fs) rs886037644
NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter)
NM_205850.3(SLC24A5):c.503C>G (p.Ser168Ter) rs977118193
NM_205850.3(SLC24A5):c.521G>A (p.Arg174Lys) rs1555452572
NM_205850.3(SLC24A5):c.528T>A (p.Cys176Ter) rs1555452574
NM_205850.3(SLC24A5):c.591G>A (p.Trp197Ter) rs886037643
NM_212550.5(BLOC1S3):c.101C>A (p.Ser34Ter) rs567410388
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs) rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs) rs1969482515
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del) rs754841982
NM_212550.5(BLOC1S3):c.448del (p.Gln150fs) rs281865116
Single allele
nsv1067844
nsv1197574

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.