ClinVar Miner

List of variants studied for disorder of melanin metabolism by OMIM

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_205850.3(SLC24A5):c.331= (p.Thr111=) rs1426654 0.70225
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000372.4(TYR):c.-199C>A rs1799989 0.16584
NM_001382347.1(MYO5A):c.3736C>T (p.Arg1246Cys) rs1058219 0.14826
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
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.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
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.2228C>T (p.Pro743Leu) rs121918167 0.00023
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_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_001305581.2(LRMDA):c.664C>T (p.Arg222Ter) rs587776952 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 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_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_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_001922.5(DCT):c.1407G>A (p.Trp469Ter) rs764655568 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_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360 0.00003
NM_001922.5(DCT):c.118T>A (p.Cys40Ser) rs370729240 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_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178 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_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171 0.00001
NM_000275.3(OCA2):c.1842+1G>T rs387906240 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.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 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_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620 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.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_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.2482-2A>G rs397507168 0.00001
NM_181507.2(HPS5):c.2593C>T (p.Arg865Ter) rs281865104 0.00001
NM_183235.3(RAB27A):c.598C>T (p.Arg200Ter) rs757849893 0.00001
MYO5A, 47-BP INS, NT4634
NC_000015.10:g.28018399_28018559del rs1555375711
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_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+5G>A rs281865077
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_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.216_232del (p.Ala73fs) rs62645741
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.695C>A (p.Thr232Lys) rs137852297
NM_000273.3(GPR143):c.756_767+2del rs281865183
NM_000273.3(GPR143):c.933_934dup (p.Gly312fs)
NM_000275.3(OCA2):c.1960del (p.Ala654fs) rs387906241
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) rs137854890
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
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_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs) rs879255646
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.876C>A (p.Tyr292Ter) rs201692579
NM_003664.5(AP3B1):c.1168_1230del (p.Leu390_Gln410del)
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.1975G>T (p.Glu659Ter) rs121908907
NM_003664.5(AP3B1):c.904A>T (p.Arg302Ter) rs121908905
NM_012388.4(BLOC1S6):c.148G>T (p.Glu50Ter)
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.285_286dup (p.His96fs)
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_012388.4(BLOC1S6):c.351dup (p.Ile118fs)
NM_016180.5(SLC45A2):c.1121del (p.Leu374fs) rs730880271
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) rs121912621
NM_016180.5(SLC45A2):c.563-1G>A rs730880270
NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del) rs387906318
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317
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.461A>G (p.His154Arg) rs281865098
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_024747.6(HPS6):c.1065dup (p.Leu356fs) rs1564899492
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.238dup (p.Asp80fs) rs281865108
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.177G>A (p.Trp59Ter) rs727502866
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.2026_2029del (p.Val676fs) rs281865103
NM_181507.2(HPS5):c.2624del (p.Leu875fs) rs281865105
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.2(HPS5):c.879dup (p.Lys294fs) rs281865101
NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile) rs2140989874
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
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.454G>C (p.Ala152Pro) rs104894499
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.467+5G>A rs2140958268
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs) rs1595700039
NM_201280.2:c.196-678_384+3483del
NM_201280.3(BLOC1S5):c.345del (p.Val116fs) rs1763106978
NM_205850.3(SLC24A5):c.1361dup (p.Leu454fs) rs886037644
NM_205850.3(SLC24A5):c.521G>A (p.Arg174Lys) rs1555452572
NM_205850.3(SLC24A5):c.571_572insTAAT (p.Tyr191fs) rs886037642
NM_205850.3(SLC24A5):c.591G>A (p.Trp197Ter) rs886037643
NM_212550.5(BLOC1S3):c.448del (p.Gln150fs) rs281865116
nsv1197574

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