ClinVar Miner

List of variants reported as likely benign for albinism by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 138
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HGVS dbSNP
NM_000081.4(LYST):c.11268-6_11268-5del
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_000096.4(CP):c.*137C>T rs34228141
NM_000096.4(CP):c.*259C>T
NM_000096.4(CP):c.*879A>C rs144029944
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000195.5(HPS1):c.*12C>T rs112544050
NM_000195.5(HPS1):c.*736C>T rs149708847
NM_000195.5(HPS1):c.-219C>G
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262
NM_000275.3(OCA2):c.*271G>A
NM_000275.3(OCA2):c.126C>T (p.Ala42=)
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923
NM_000275.3(OCA2):c.1679G>A (p.Arg560His) rs35110389
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.835T>C (p.Leu279=) rs4987234
NM_000550.3(TYRP1):c.*229C>G
NM_000550.3(TYRP1):c.*509C>A rs74941076
NM_000550.3(TYRP1):c.1082-8G>A rs79992094
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600
NM_000550.3(TYRP1):c.67C>T (p.Arg23Trp)
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) rs16929374
NM_001271769.2(AP3B1):c.*588A>G rs114954951
NM_001301365.1(LYST):c.-7-14T>C
NM_001301365.1(LYST):c.-98+16250G>C
NM_001301365.1(LYST):c.1384C>T (p.Pro462Ser)
NM_001301365.1(LYST):c.1494A>G (p.Arg498=)
NM_001301365.1(LYST):c.1664A>C (p.His555Pro)
NM_001301365.1(LYST):c.1686G>C (p.Gln562His) rs77091385
NM_001301365.1(LYST):c.2355T>C (p.Leu785=) rs3768066
NM_001301365.1(LYST):c.368A>G (p.His123Arg) rs3768067
NM_001301365.1(LYST):c.4337G>A (p.Arg1446Gln)
NM_001301365.1(LYST):c.4392C>T (p.Asn1464=) rs11583387
NM_001301365.1(LYST):c.6292G>A (p.Ala2098Thr)
NM_001301365.1(LYST):c.8368A>C (p.Lys2790Gln)
NM_001301365.1(LYST):c.8497G>A (p.Ala2833Thr)
NM_001301365.1(LYST):c.9162+11G>A
NM_001349896.1(HPS4):c.-185A>G rs188205202
NM_001349896.1(HPS4):c.-395A>C rs147631281
NM_001349896.1(HPS4):c.-479+40A>G rs3747137
NM_001349896.1(HPS4):c.-494T>G rs187762406
NM_001349896.1(HPS4):c.-570G>T rs753668169
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260
NM_003664.4(AP3B1):c.1421C>T (p.Ala474Val)
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_003664.4(AP3B1):c.942G>A (p.Ala314=) rs146871001
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146
NM_003664.5(AP3B1):c.1969-10G>A rs77009095
NM_003664.5(AP3B1):c.3020_3022CTG[1] (p.Ala1008del) rs111935323
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909
NM_012388.3(BLOC1S6):c.*1706G>A rs7181436
NM_012388.3(BLOC1S6):c.*188T>C rs58509170
NM_012388.3(BLOC1S6):c.*797T>A rs11638237
NM_012388.3(BLOC1S6):c.-153G>A rs115857479
NM_014324.6(AMACR):c.*1070C>T rs16892064
NM_014324.6(AMACR):c.*1144A>G rs840380
NM_014324.6(AMACR):c.*1961G>A rs113746028
NM_014324.6(AMACR):c.*227T>G rs6863560
NM_014324.6(AMACR):c.*617G>T rs12659370
NM_014324.6(AMACR):c.*663G>A rs15612
NM_014324.6(AMACR):c.*963C>T rs6898962
NM_014324.6(AMACR):c.*982C>T rs16892066
NM_016180.5(SLC45A2):c.*24A>C
NM_016180.5(SLC45A2):c.1032+9C>T rs113928135
NM_022081.5(HPS4):c.15C>T (p.Thr5=) rs144622501
NM_024747.5(HPS6):c.105T>C (p.Arg35=) rs573488604
NM_024747.5(HPS6):c.1779G>A (p.Pro593=) rs77529785
NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) rs200584437
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)
NM_032122.4(DTNBP1):c.*105A>G rs1047631
NM_032122.4(DTNBP1):c.886C>T (p.Pro296Ser) rs74907982
NM_032122.5(DTNBP1):c.667+2C>T rs61739410
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454
NM_032122.5(DTNBP1):c.874A>G (p.Arg292Gly) rs73369534
NM_032383.5(HPS3):c.*170C>T rs182666670
NM_032383.5(HPS3):c.1228A>G (p.Met410Val)
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717
NM_032383.5(HPS3):c.884+25del rs10693502
NM_152841.2(HPS4):c.*1253G>A rs534586940
NM_152841.2(HPS4):c.*1589C>A rs117397456
NM_152841.2(HPS4):c.*1850G>A
NM_152841.2(HPS4):c.*751G>A rs190837977
NM_152841.2(HPS4):c.1685C>T (p.Ala562Val) rs140234219
NM_152841.2(HPS4):c.1868G>A (p.Arg623His) rs78892693
NM_152841.2(HPS4):c.1884C>T (p.Val628=) rs35993959
NM_152841.2(HPS4):c.543G>A (p.Ser181=) rs13054747
NM_152841.2(HPS4):c.681G>A (p.Pro227=) rs3747132
NM_181507.1(HPS5):c.*362G>A rs148862838
NM_181507.1(HPS5):c.*688A>G rs145507598
NM_181507.1(HPS5):c.*70C>T rs371535842
NM_181507.1(HPS5):c.1900G>A (p.Glu634Lys) rs143204089
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser)
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823
NM_181507.2(HPS5):c.1785-13C>T rs73430857
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493
NM_183235.3(RAB27A):c.*132G>A
NM_183235.3(RAB27A):c.*1493T>A
NM_183235.3(RAB27A):c.*2160A>G
NM_183235.3(RAB27A):c.*2216A>G
NM_183235.3(RAB27A):c.*668A>G
NM_183235.3(RAB27A):c.*725C>T
NM_183235.3(RAB27A):c.-142-65C>G
NM_183235.3(RAB27A):c.-142-86A>T
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552
NM_212550.4(BLOC1S3):c.*1086G>A rs116251719
NM_212550.4(BLOC1S3):c.*1286T>C rs79968982
NM_212550.4(BLOC1S3):c.*1471C>T rs73939649
NM_212550.4(BLOC1S3):c.*1700G>A rs76151738
NM_212550.4(BLOC1S3):c.*1746C>G rs74798348
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751
NM_212550.4(BLOC1S3):c.*285T>A rs6509200
NM_212550.4(BLOC1S3):c.*426C>G rs142584236
NM_212550.4(BLOC1S3):c.*465A>T rs115683085
NM_212550.4(BLOC1S3):c.*946C>T rs111903160
NM_212550.4(BLOC1S3):c.-10+4C>G rs116105443
NM_212550.4(BLOC1S3):c.-57A>T rs116448245
NM_212550.4(BLOC1S3):c.-71G>A rs59215448
NM_212550.4(BLOC1S3):c.-73A>C rs8104024
NM_212550.5(BLOC1S3):c.144C>A (p.Arg48=) rs182286598
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=) rs758506

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