ClinVar Miner

List of variants reported as likely pathogenic for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
NM_000081.4(LYST):c.4862+2T>A
NM_000081.4(LYST):c.4863-4G>T
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg)
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)
NM_000195.5(HPS1):c.1744-2A>C rs281865088
NM_000195.5(HPS1):c.1857+2T>C
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter)
NM_000195.5(HPS1):c.399-14G>A
NM_000195.5(HPS1):c.507+2T>G
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly)
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000273.3(GPR143):c.12_36del (p.Leu6fs) rs1057518787
NM_000273.3(GPR143):c.223dup (p.Ala75fs) rs672601353
NM_000273.3(GPR143):c.779A>G (p.Asn260Ser) rs62635042
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly) rs62635045
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246
NM_000275.3(OCA2):c.1045-15T>G rs779461179
NM_000275.3(OCA2):c.1056A>C (p.Arg352Ser) rs1566767423
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val) rs570914443
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749
NM_000275.3(OCA2):c.1182+2dup rs1567200202
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594
NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro)
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000275.3(OCA2):c.1460C>A (p.Pro487His)
NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000275.3(OCA2):c.1637-2A>G
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) rs1384042381
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1951+4A>G rs759740402
NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg) rs879253729
NM_000275.3(OCA2):c.1973C>T (p.Ala658Val)
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) rs797045838
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839
NM_000275.3(OCA2):c.2360C>A (p.Ala787Glu) rs200457227
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000275.3(OCA2):c.646+1825_807+679del
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.987delinsAGA (p.Gln330fs) rs1566797858
NM_000372.4(TYR):c.[1276_1282delATGGTTC];[139G>A]
NM_000372.5(TYR):c.101A>C (p.Glu34Ala) rs1555083355
NM_000372.5(TYR):c.1037-18T>G rs781052288
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1100A>G (p.His367Arg) rs61754384
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1184+2T>C rs758119014
NM_000372.5(TYR):c.1198T>A (p.Trp400Arg)
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.121G>A (p.Gly41Arg)
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.5(TYR):c.157G>T (p.Gly53Cys)
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.223G>T (p.Asp75Tyr) rs1565386425
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys) rs797046082
NM_000372.5(TYR):c.452T>G (p.Ile151Ser) rs747095957
NM_000372.5(TYR):c.529G>C (p.Val177Leu)
NM_000372.5(TYR):c.551C>G (p.Ser184Ter) rs367543066
NM_000372.5(TYR):c.580del (p.Ile194fs) rs797046132
NM_000372.5(TYR):c.585G>A (p.Trp195Ter) rs147574809
NM_000372.5(TYR):c.635G>A (p.Arg212Lys) rs377209424
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000372.5(TYR):c.739T>C (p.Cys247Arg) rs367543068
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.5(TYR):c.902C>T (p.Pro301Leu) rs796051880
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797
NM_000372.5(TYR):c.943_948del (p.Ser315_Ala316del) rs1565391977
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424
NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser) rs771055145
NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro) rs776174514
NM_000550.3(TYRP1):c.1261+1G>A rs140365820
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter) rs752358009
NM_000550.3(TYRP1):c.256G>T (p.Asp86Tyr) rs1563851602
NM_000550.3(TYRP1):c.670C>T (p.His224Tyr) rs1057518841
NM_001301365.1(LYST):c.3310C>T (p.Arg1104Ter) rs80338652
NM_001301365.1(LYST):c.5719A>G (p.Ile1907Val)
NM_001305581.2(LRMDA):c.351C>A (p.Asn117Lys) rs878854351
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.512C>G (p.Ala171Gly) rs373224783
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.517_519GTC[1] (p.Val174del) rs747777879
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002386.3(MC1R):c.894C>G (p.Tyr298Ter) rs143395134
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met)
NM_016180.3(SLC45A2):c.264delC rs775387808
NM_016180.4(SLC45A2):c.[1454T>C];[264delC]
NM_016180.5(SLC45A2):c.149C>A (p.Ala50Glu)
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789
NM_016180.5(SLC45A2):c.191G>T (p.Gly64Val)
NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg) rs797045970
NM_024747.5(HPS6):c.1649del (p.Gly550fs)
NM_024747.5(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024747.5(HPS6):c.19_20delCT
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.706_707delTC
NM_024747.5(HPS6):c.779G>A (p.Gly260Glu)
NM_024747.6(HPS6):c.1A>G (p.Met1Val)
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser)
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter)
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)
NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs)
NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter)
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)
NM_032383.5(HPS3):c.2463dup (p.Arg822fs)
NM_032383.5(HPS3):c.2737_2738GA[1] (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.89_114del (p.Arg30fs) rs1553750083
NM_152841.2(HPS4):c.1117C>T (p.Gln373Ter) rs369053765
NM_152841.2(HPS4):c.261+5G>A
NM_181507.1(HPS5):c.2036C>G (p.Ser679Ter)
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636
NM_205850.3(SLC24A5):c.1078+1G>A

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