ClinVar Miner

List of variants studied for albinism by Invitae

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 252
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HGVS dbSNP
NC_000005.9:g.(?_77536666)_(77590423_?)dup
NC_000015.9:g.(?_55516067)_(55516230_?)del
NC_000015.9:g.(?_55516067)_(55527152_?)del
NC_000015.9:g.(?_55526960)_(55527152_?)del
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_001271769.2(AP3B1):c.2873_2875CTG[1] (p.Ala959del) rs111935323
NM_001301365.1(LYST):c.10025G>A (p.Arg3342Gln)
NM_001301365.1(LYST):c.10127A>G (p.Asn3376Ser)
NM_001301365.1(LYST):c.10174G>A (p.Glu3392Lys)
NM_001301365.1(LYST):c.10235G>A (p.Arg3412His) rs148409403
NM_001301365.1(LYST):c.10346G>A (p.Arg3449Gln)
NM_001301365.1(LYST):c.10370A>G (p.Tyr3457Cys)
NM_001301365.1(LYST):c.10392A>G (p.Ile3464Met)
NM_001301365.1(LYST):c.10444G>A (p.Val3482Met)
NM_001301365.1(LYST):c.10459C>G (p.Gln3487Glu)
NM_001301365.1(LYST):c.10468G>A (p.Gly3490Arg)
NM_001301365.1(LYST):c.10669G>T (p.Val3557Leu)
NM_001301365.1(LYST):c.10684A>C (p.Ser3562Arg)
NM_001301365.1(LYST):c.10817T>C (p.Met3606Thr)
NM_001301365.1(LYST):c.1111C>T (p.Pro371Ser)
NM_001301365.1(LYST):c.11167G>A (p.Ala3723Thr)
NM_001301365.1(LYST):c.11278T>C (p.Ser3760Pro)
NM_001301365.1(LYST):c.112C>T (p.His38Tyr)
NM_001301365.1(LYST):c.11354G>A (p.Arg3785His) rs370173269
NM_001301365.1(LYST):c.11401G>C (p.Gly3801Arg)
NM_001301365.1(LYST):c.1198C>A (p.Leu400Ile)
NM_001301365.1(LYST):c.1328A>G (p.Asn443Ser)
NM_001301365.1(LYST):c.1390G>A (p.Glu464Lys)
NM_001301365.1(LYST):c.143A>G (p.His48Arg)
NM_001301365.1(LYST):c.1532A>G (p.His511Arg)
NM_001301365.1(LYST):c.153A>C (p.Gly51=) rs11464
NM_001301365.1(LYST):c.1565C>T (p.Ser522Leu)
NM_001301365.1(LYST):c.1610C>T (p.Ala537Val)
NM_001301365.1(LYST):c.1636C>T (p.Arg546Trp)
NM_001301365.1(LYST):c.1664A>C (p.His555Pro)
NM_001301365.1(LYST):c.1697T>G (p.Leu566Trp)
NM_001301365.1(LYST):c.1767A>C (p.Lys589Asn)
NM_001301365.1(LYST):c.1829A>T (p.His610Leu)
NM_001301365.1(LYST):c.1940T>G (p.Leu647Arg)
NM_001301365.1(LYST):c.1996A>G (p.Ser666Gly)
NM_001301365.1(LYST):c.2258G>A (p.Ser753Asn)
NM_001301365.1(LYST):c.2310T>C (p.Pro770=)
NM_001301365.1(LYST):c.2316C>T (p.Asp772=) rs16832868
NM_001301365.1(LYST):c.2413G>T (p.Glu805Ter)
NM_001301365.1(LYST):c.2413del (p.Glu805fs)
NM_001301365.1(LYST):c.2438G>A (p.Arg813Gln)
NM_001301365.1(LYST):c.2442T>A (p.Ser814Arg)
NM_001301365.1(LYST):c.2443C>T (p.His815Tyr)
NM_001301365.1(LYST):c.2455G>A (p.Ala819Thr)
NM_001301365.1(LYST):c.2480T>A (p.Leu827Gln)
NM_001301365.1(LYST):c.278C>G (p.Ala93Gly)
NM_001301365.1(LYST):c.2828G>A (p.Cys943Tyr)
NM_001301365.1(LYST):c.285T>G (p.Asp95Glu)
NM_001301365.1(LYST):c.2870T>C (p.Met957Thr)
NM_001301365.1(LYST):c.2926G>A (p.Val976Met)
NM_001301365.1(LYST):c.2963G>A (p.Arg988Gln)
NM_001301365.1(LYST):c.3014A>G (p.His1005Arg)
NM_001301365.1(LYST):c.3050G>A (p.Ser1017Asn) rs10465613
NM_001301365.1(LYST):c.3065A>G (p.Gln1022Arg)
NM_001301365.1(LYST):c.3083C>G (p.Ser1028Cys) rs150636017
NM_001301365.1(LYST):c.3091A>G (p.Lys1031Glu)
NM_001301365.1(LYST):c.3134G>A (p.Ser1045Asn)
NM_001301365.1(LYST):c.3137A>G (p.Asp1046Gly)
NM_001301365.1(LYST):c.3310C>T (p.Arg1104Ter) rs80338652
NM_001301365.1(LYST):c.3311G>A (p.Arg1104Gln) rs148299757
NM_001301365.1(LYST):c.3324C>T (p.Ala1108=)
NM_001301365.1(LYST):c.3370A>G (p.Met1124Val)
NM_001301365.1(LYST):c.3499G>A (p.Val1167Ile)
NM_001301365.1(LYST):c.3536A>G (p.Asn1179Ser)
NM_001301365.1(LYST):c.3573A>C (p.Glu1191Asp)
NM_001301365.1(LYST):c.3613G>A (p.Glu1205Lys)
NM_001301365.1(LYST):c.3746G>A (p.Ser1249Asn)
NM_001301365.1(LYST):c.3775G>A (p.Glu1259Lys)
NM_001301365.1(LYST):c.3898A>G (p.Ile1300Val)
NM_001301365.1(LYST):c.3989A>C (p.Asp1330Ala) rs74641549
NM_001301365.1(LYST):c.4084T>G (p.Leu1362Val)
NM_001301365.1(LYST):c.4108C>G (p.Pro1370Ala)
NM_001301365.1(LYST):c.4135A>G (p.Ile1379Val)
NM_001301365.1(LYST):c.4187C>G (p.Thr1396Ser)
NM_001301365.1(LYST):c.422G>A (p.Arg141Gln)
NM_001301365.1(LYST):c.4357A>G (p.Ile1453Val)
NM_001301365.1(LYST):c.4377G>A (p.Pro1459=)
NM_001301365.1(LYST):c.4416T>C (p.Gly1472=)
NM_001301365.1(LYST):c.446T>C (p.Ile149Thr)
NM_001301365.1(LYST):c.4487A>C (p.Lys1496Thr)
NM_001301365.1(LYST):c.452A>G (p.His151Arg)
NM_001301365.1(LYST):c.4545G>C (p.Glu1515Asp)
NM_001301365.1(LYST):c.4548C>A (p.Ser1516Arg)
NM_001301365.1(LYST):c.4670A>G (p.Asn1557Ser)
NM_001301365.1(LYST):c.4688+6G>A
NM_001301365.1(LYST):c.4705A>C (p.Asn1569His)
NM_001301365.1(LYST):c.476G>A (p.Arg159Lys)
NM_001301365.1(LYST):c.4904C>G (p.Thr1635Arg)
NM_001301365.1(LYST):c.5033T>C (p.Val1678Ala)
NM_001301365.1(LYST):c.5263A>G (p.Ile1755Val)
NM_001301365.1(LYST):c.5291G>A (p.Gly1764Asp)
NM_001301365.1(LYST):c.5291G>C (p.Gly1764Ala) rs35413645
NM_001301365.1(LYST):c.52C>T (p.Arg18Trp)
NM_001301365.1(LYST):c.5533A>G (p.Asn1845Asp)
NM_001301365.1(LYST):c.5549A>G (p.His1850Arg)
NM_001301365.1(LYST):c.5590G>T (p.Val1864Leu)
NM_001301365.1(LYST):c.5719A>G (p.Ile1907Val)
NM_001301365.1(LYST):c.574T>G (p.Leu192Val) rs7524261
NM_001301365.1(LYST):c.5833G>A (p.Ala1945Thr)
NM_001301365.1(LYST):c.5847G>C (p.Gln1949His) rs6665568
NM_001301365.1(LYST):c.5883A>G (p.Gln1961=)
NM_001301365.1(LYST):c.5920C>G (p.Gln1974Glu)
NM_001301365.1(LYST):c.5956C>T (p.Arg1986Ter)
NM_001301365.1(LYST):c.5957G>A (p.Arg1986Gln)
NM_001301365.1(LYST):c.6149G>A (p.Arg2050Gln)
NM_001301365.1(LYST):c.6188G>A (p.Arg2063Lys)
NM_001301365.1(LYST):c.6238G>C (p.Ala2080Pro)
NM_001301365.1(LYST):c.6266C>G (p.Ser2089Cys)
NM_001301365.1(LYST):c.6279A>G (p.Pro2093=)
NM_001301365.1(LYST):c.6460G>A (p.Asp2154Asn)
NM_001301365.1(LYST):c.646C>T (p.Pro216Ser)
NM_001301365.1(LYST):c.6630A>G (p.Glu2210=) rs34466404
NM_001301365.1(LYST):c.6656G>A (p.Gly2219Glu)
NM_001301365.1(LYST):c.6682G>C (p.Asp2228His)
NM_001301365.1(LYST):c.6775G>A (p.Val2259Ile)
NM_001301365.1(LYST):c.6833A>G (p.Tyr2278Cys)
NM_001301365.1(LYST):c.6863G>A (p.Arg2288Gln)
NM_001301365.1(LYST):c.6898T>G (p.Leu2300Val)
NM_001301365.1(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_001301365.1(LYST):c.7181A>G (p.Glu2394Gly)
NM_001301365.1(LYST):c.71T>C (p.Val24Ala)
NM_001301365.1(LYST):c.7228G>A (p.Glu2410Lys)
NM_001301365.1(LYST):c.7258G>A (p.Gly2420Arg)
NM_001301365.1(LYST):c.7322A>C (p.Asn2441Thr)
NM_001301365.1(LYST):c.7340C>T (p.Ala2447Val)
NM_001301365.1(LYST):c.7350_7352TCT[1] (p.Leu2452del)
NM_001301365.1(LYST):c.7370C>A (p.Ser2457Tyr)
NM_001301365.1(LYST):c.7385C>A (p.Ala2462Glu)
NM_001301365.1(LYST):c.7430C>T (p.Thr2477Ile)
NM_001301365.1(LYST):c.7439C>A (p.Ala2480Asp)
NM_001301365.1(LYST):c.7457A>G (p.Lys2486Arg)
NM_001301365.1(LYST):c.748A>G (p.Met250Val)
NM_001301365.1(LYST):c.7576C>T (p.Leu2526Phe)
NM_001301365.1(LYST):c.7627+6A>T
NM_001301365.1(LYST):c.7766G>A (p.Arg2589Gln)
NM_001301365.1(LYST):c.777T>C (p.His259=)
NM_001301365.1(LYST):c.7784C>T (p.Pro2595Leu)
NM_001301365.1(LYST):c.7862T>C (p.Met2621Thr) rs368500877
NM_001301365.1(LYST):c.7920G>A (p.Ala2640=)
NM_001301365.1(LYST):c.7957A>G (p.Arg2653Gly)
NM_001301365.1(LYST):c.8222G>A (p.Arg2741Gln)
NM_001301365.1(LYST):c.8258C>T (p.Ser2753Leu)
NM_001301365.1(LYST):c.8328A>G (p.Ile2776Met)
NM_001301365.1(LYST):c.8336A>G (p.Asp2779Gly)
NM_001301365.1(LYST):c.8411G>A (p.Gly2804Asp) rs35333195
NM_001301365.1(LYST):c.8426A>G (p.Glu2809Gly)
NM_001301365.1(LYST):c.8438C>A (p.Thr2813Lys)
NM_001301365.1(LYST):c.8560G>A (p.Glu2854Lys)
NM_001301365.1(LYST):c.8571T>G (p.Asn2857Lys)
NM_001301365.1(LYST):c.8572A>C (p.Lys2858Gln)
NM_001301365.1(LYST):c.8624G>A (p.Arg2875His)
NM_001301365.1(LYST):c.8629G>A (p.Asp2877Asn)
NM_001301365.1(LYST):c.8657T>C (p.Ile2886Thr)
NM_001301365.1(LYST):c.8806G>A (p.Val2936Ile) rs2753327
NM_001301365.1(LYST):c.8960C>G (p.Pro2987Arg)
NM_001301365.1(LYST):c.9017A>G (p.Lys3006Arg) rs140934482
NM_001301365.1(LYST):c.901A>G (p.Ser301Gly)
NM_001301365.1(LYST):c.9053G>A (p.Arg3018Gln)
NM_001301365.1(LYST):c.925C>T (p.Arg309Ter)
NM_001301365.1(LYST):c.9327T>A (p.Asp3109Glu)
NM_001301365.1(LYST):c.9347C>A (p.Thr3116Lys)
NM_001301365.1(LYST):c.9415C>A (p.Gln3139Lys)
NM_001301365.1(LYST):c.9473A>G (p.Asn3158Ser)
NM_001301365.1(LYST):c.9517T>C (p.Tyr3173His)
NM_001301365.1(LYST):c.9529A>C (p.Thr3177Pro)
NM_001301365.1(LYST):c.9552G>T (p.Leu3184Phe) rs556200563
NM_001301365.1(LYST):c.957G>A (p.Pro319=)
NM_001301365.1(LYST):c.9646C>T (p.Arg3216Cys)
NM_001301365.1(LYST):c.9653_9654delinsTT (p.Gly3218Val)
NM_001301365.1(LYST):c.9811A>T (p.Thr3271Ser)
NM_001301365.1(LYST):c.9823A>G (p.Thr3275Ala)
NM_001301365.1(LYST):c.9839G>A (p.Arg3280Gln)
NM_001301365.1(LYST):c.9896A>G (p.Tyr3299Cys)
NM_001301365.1(LYST):c.9919C>T (p.Arg3307Cys)
NM_001301365.1(LYST):c.9920G>A (p.Arg3307His)
NM_001301365.1(LYST):c.9943C>T (p.Arg3315Cys)
NM_001301365.1(LYST):c.9C>T (p.Thr3=) rs33998267
NM_003664.4(AP3B1):c.1022G>A (p.Arg341His) rs141832130
NM_003664.4(AP3B1):c.1159A>G (p.Thr387Ala) rs762030946
NM_003664.4(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589
NM_003664.4(AP3B1):c.1193A>G (p.Asn398Ser)
NM_003664.4(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996
NM_003664.4(AP3B1):c.1292G>A (p.Cys431Tyr) rs751127592
NM_003664.4(AP3B1):c.1325G>A (p.Cys442Tyr)
NM_003664.4(AP3B1):c.1363G>A (p.Glu455Lys)
NM_003664.4(AP3B1):c.1421C>T (p.Ala474Val)
NM_003664.4(AP3B1):c.1675T>A (p.Leu559Ile)
NM_003664.4(AP3B1):c.1679A>G (p.Asn560Ser) rs776064198
NM_003664.4(AP3B1):c.1718G>A (p.Arg573His) rs1229904606
NM_003664.4(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572
NM_003664.4(AP3B1):c.1747C>G (p.Pro583Ala)
NM_003664.4(AP3B1):c.1748C>T (p.Pro583Leu) rs148023800
NM_003664.4(AP3B1):c.176A>G (p.Lys59Arg)
NM_003664.4(AP3B1):c.1868C>T (p.Ser623Phe)
NM_003664.4(AP3B1):c.2018A>G (p.Lys673Arg) rs763619135
NM_003664.4(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178
NM_003664.4(AP3B1):c.2239A>G (p.Lys747Glu)
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2527A>G (p.Met843Val)
NM_003664.4(AP3B1):c.2548C>A (p.His850Asn)
NM_003664.4(AP3B1):c.2673G>C (p.Gln891His) rs770455413
NM_003664.4(AP3B1):c.2709A>G (p.Gln903=)
NM_003664.4(AP3B1):c.2765A>G (p.Lys922Arg) rs1554059568
NM_003664.4(AP3B1):c.2779G>A (p.Gly927Ser) rs746205404
NM_003664.4(AP3B1):c.279+6G>A rs1269853831
NM_003664.4(AP3B1):c.2812T>C (p.Ser938Pro) rs1002296977
NM_003664.4(AP3B1):c.2900A>G (p.Lys967Arg)
NM_003664.4(AP3B1):c.2932C>T (p.Pro978Ser)
NM_003664.4(AP3B1):c.3131+5G>T rs191616060
NM_003664.4(AP3B1):c.38G>C (p.Gly13Ala)
NM_003664.4(AP3B1):c.823G>A (p.Glu275Lys)
NM_003664.4(AP3B1):c.869C>T (p.Pro290Leu) rs759296897
NM_003664.4(AP3B1):c.929G>C (p.Ser310Thr)
NM_003664.4(AP3B1):c.97G>T (p.Ala33Ser)
NM_012388.3(BLOC1S6):c.131T>C (p.Ile44Thr)
NM_012388.3(BLOC1S6):c.182T>G (p.Leu61Trp) rs1048656816
NM_012388.3(BLOC1S6):c.196A>G (p.Arg66Gly)
NM_012388.3(BLOC1S6):c.205C>G (p.Gln69Glu)
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_012388.3(BLOC1S6):c.286C>T (p.His96Tyr)
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116
NM_012388.3(BLOC1S6):c.391A>G (p.Lys131Glu)
NM_012388.3(BLOC1S6):c.421C>T (p.Gln141Ter)
NM_012388.3(BLOC1S6):c.501A>T (p.Arg167Ser)
NM_012388.3(BLOC1S6):c.79C>T (p.Pro27Ser) rs138284359
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys) rs145253993
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.195C>G (p.Gly65=) rs897453247
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val) rs137960099
NM_183235.3(RAB27A):c.343+6del rs1277146219
NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe) rs1259290779
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407
NM_183235.3(RAB27A):c.419_420AG[2] (p.Arg141fs)
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly)
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln) rs141362723
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)
NM_183235.3(RAB27A):c.620C>T (p.Thr207Met) rs151048993
NM_183235.3(RAB27A):c.621G>A (p.Thr207=) rs764546558
NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg)
Single allele

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