ClinVar Miner

List of variants reported as pathogenic for albinism by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_000081.3(LYST):c.8802-2A>G
NM_000195.4(HPS1):c.1472_1487dup16 (p.His497Glnfs) rs281865163
NM_000195.4(HPS1):c.233_242delACTTCCTGTA (p.Asn78Metfs) rs773323079
NM_000275.2(OCA2):c.1182+1G>A rs371963034
NM_000275.2(OCA2):c.121_128delGGAGCCGG (p.Gly41Trpfs) rs1555392037
NM_000275.2(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.2(OCA2):c.1427A>G (p.Asn476Ser) rs763819379
NM_000275.2(OCA2):c.1465A>G (p.Asn489Asp) rs121918170
NM_000275.2(OCA2):c.1503+5G>A rs368124046
NM_000275.2(OCA2):c.171delG (p.Gln58Argfs) rs1555391997
NM_000275.2(OCA2):c.2080-1G>A rs1555422232
NM_000275.2(OCA2):c.647-?_807+?del
NM_000275.2(OCA2):c.647-?_890+?del
NM_000275.2(OCA2):c.807+1G>T rs763219039
NM_000275.2(OCA2):c.819_822invCTGG (p.Trp274Gln)
NM_000372.4(TYR):c.1036G>T (p.Gly346Ter) rs1013801316
NM_000372.4(TYR):c.1037-1G>A rs61754382
NM_000372.4(TYR):c.1037-7T>A rs61754381
NM_000372.4(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.4(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.4(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.4(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.4(TYR):c.1467dupT (p.Ala490Cysfs) rs61754399
NM_000372.4(TYR):c.164G>A (p.Cys55Tyr) rs28940879
NM_000372.4(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000372.4(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.4(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000372.4(TYR):c.346C>T (p.Arg116Ter) rs61753256
NM_000372.4(TYR):c.572delG (p.Gly191Aspfs) rs61754361
NM_000372.4(TYR):c.613C>A (p.Pro205Thr) rs61754362
NM_000372.4(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.4(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000372.4(TYR):c.658C>T (p.Gln220Ter) rs797046083
NM_000372.4(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.4(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.4(TYR):c.820-3C>G rs61754371
NM_000372.4(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.4(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.4(TYR):c.880G>A (p.Glu294Lys) rs757754120
NM_000372.4(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.4(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.4(TYR):c.929dupC (p.Arg311Lysfs) rs281865527
NM_000372.4(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000550.2(TYRP1):c.1261+1G>A rs140365820
NM_004580.4(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_004580.4(RAB27A):c.550C>T (p.Arg184Ter) rs200956636
NM_016180.4(SLC45A2):c.1076_1077delAG (p.Glu359Valfs) rs753485165
NM_016180.4(SLC45A2):c.1368+1G>T rs1294369944
NM_016180.4(SLC45A2):c.210C>A (p.Tyr70Ter) rs562624441
NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Terfs) rs1220869113
NM_032122.4(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945
NM_181507.1(HPS5):c.107del (p.Lys36Serfs) rs1554948134

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