ClinVar Miner

List of variants reported as uncertain significance for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 820
Download table as spreadsheet
HGVS dbSNP
NC_000005.9:g.(?_77536666)_(77590423_?)dup
NM_000081.3(LYST):c.*1211G>A
NM_000081.3(LYST):c.*1275T>C
NM_000081.3(LYST):c.*1295T>C
NM_000081.3(LYST):c.*1356G>T
NM_000081.3(LYST):c.*1379G>C
NM_000081.3(LYST):c.*1428T>G
NM_000081.3(LYST):c.*1438C>T
NM_000081.3(LYST):c.*1792A>G
NM_000081.3(LYST):c.*1831A>C
NM_000081.3(LYST):c.*1861C>A
NM_000081.3(LYST):c.*191T>C
NM_000081.3(LYST):c.*247G>T
NM_000081.3(LYST):c.*329A>G
NM_000081.3(LYST):c.*519C>T
NM_000081.3(LYST):c.*5G>A
NM_000081.3(LYST):c.*694T>C
NM_000081.3(LYST):c.*725G>A
NM_000081.3(LYST):c.*824A>G
NM_000081.3(LYST):c.*831A>G
NM_000081.3(LYST):c.*873G>C
NM_000081.3(LYST):c.*891G>C
NM_000081.3(LYST):c.*907G>A
NM_000081.3(LYST):c.*94A>G
NM_000081.3(LYST):c.-131G>C
NM_000081.3(LYST):c.-134G>A
NM_000081.3(LYST):c.-139G>A
NM_000081.3(LYST):c.-140G>C
NM_000081.3(LYST):c.-142C>T
NM_000081.3(LYST):c.-5C>T rs141317482
NM_000081.3(LYST):c.-7-14T>C
NM_000081.3(LYST):c.-97-9T>G
NM_000081.3(LYST):c.10025G>A (p.Arg3342Gln)
NM_000081.3(LYST):c.10091A>G (p.Tyr3364Cys)
NM_000081.3(LYST):c.10127A>G (p.Asn3376Ser)
NM_000081.3(LYST):c.10174G>A (p.Glu3392Lys)
NM_000081.3(LYST):c.10235G>A (p.Arg3412His)
NM_000081.3(LYST):c.10341G>A (p.Glu3447=)
NM_000081.3(LYST):c.10346G>A (p.Arg3449Gln)
NM_000081.3(LYST):c.10370A>G (p.Tyr3457Cys)
NM_000081.3(LYST):c.10392A>G (p.Ile3464Met)
NM_000081.3(LYST):c.10414T>C (p.Tyr3472His)
NM_000081.3(LYST):c.10444G>A (p.Val3482Met)
NM_000081.3(LYST):c.10459C>G (p.Gln3487Glu)
NM_000081.3(LYST):c.10468G>A (p.Gly3490Arg)
NM_000081.3(LYST):c.10477T>C (p.Phe3493Leu)
NM_000081.3(LYST):c.10526G>A (p.Arg3509Gln)
NM_000081.3(LYST):c.10657A>G (p.Ser3553Gly)
NM_000081.3(LYST):c.10669G>T (p.Val3557Leu)
NM_000081.3(LYST):c.10684A>C (p.Ser3562Arg)
NM_000081.3(LYST):c.10707T>C (p.Thr3569=)
NM_000081.3(LYST):c.10733G>T (p.Cys3578Phe)
NM_000081.3(LYST):c.10800+4G>T rs41308172
NM_000081.3(LYST):c.10817T>C (p.Met3606Thr)
NM_000081.3(LYST):c.10838A>G (p.Tyr3613Cys)
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.11076C>T (p.Asn3692=)
NM_000081.3(LYST):c.110C>T (p.Thr37Met)
NM_000081.3(LYST):c.1111C>T (p.Pro371Ser)
NM_000081.3(LYST):c.11122G>A (p.Val3708Met)
NM_000081.3(LYST):c.11167G>A (p.Ala3723Thr)
NM_000081.3(LYST):c.11167G>T (p.Ala3723Ser)
NM_000081.3(LYST):c.11196-15T>G
NM_000081.3(LYST):c.11278T>C (p.Ser3760Pro)
NM_000081.3(LYST):c.112C>T (p.His38Tyr)
NM_000081.3(LYST):c.11354G>A (p.Arg3785His) rs370173269
NM_000081.3(LYST):c.11401G>C (p.Gly3801Arg)
NM_000081.3(LYST):c.1198C>A (p.Leu400Ile)
NM_000081.3(LYST):c.1275C>G (p.Tyr425Ter)
NM_000081.3(LYST):c.1328A>G (p.Asn443Ser)
NM_000081.3(LYST):c.1390G>A (p.Glu464Lys)
NM_000081.3(LYST):c.143A>G (p.His48Arg)
NM_000081.3(LYST):c.1478A>G (p.His493Arg)
NM_000081.3(LYST):c.1494A>G (p.Arg498=)
NM_000081.3(LYST):c.1532A>G (p.His511Arg)
NM_000081.3(LYST):c.1565C>T (p.Ser522Leu)
NM_000081.3(LYST):c.1610C>T (p.Ala537Val)
NM_000081.3(LYST):c.1636C>T (p.Arg546Trp)
NM_000081.3(LYST):c.1655T>C (p.Val552Ala)
NM_000081.3(LYST):c.1664A>C (p.His555Pro)
NM_000081.3(LYST):c.1697T>G (p.Leu566Trp)
NM_000081.3(LYST):c.1722A>G (p.Leu574=)
NM_000081.3(LYST):c.1725G>A (p.Ser575=)
NM_000081.3(LYST):c.1767A>C (p.Lys589Asn)
NM_000081.3(LYST):c.1829A>T (p.His610Leu)
NM_000081.3(LYST):c.1940T>G (p.Leu647Arg)
NM_000081.3(LYST):c.196T>C (p.Leu66=)
NM_000081.3(LYST):c.1996A>G (p.Ser666Gly)
NM_000081.3(LYST):c.2009_2011CTT[1] (p.Ser671del)
NM_000081.3(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.3(LYST):c.2313G>A (p.Gln771=)
NM_000081.3(LYST):c.2438G>A (p.Arg813Gln)
NM_000081.3(LYST):c.2442T>A (p.Ser814Arg)
NM_000081.3(LYST):c.2443C>T (p.His815Tyr)
NM_000081.3(LYST):c.244C>T (p.Leu82=)
NM_000081.3(LYST):c.2455G>A (p.Ala819Thr)
NM_000081.3(LYST):c.2480T>A (p.Leu827Gln)
NM_000081.3(LYST):c.2517T>C (p.Ile839=)
NM_000081.3(LYST):c.2630G>C (p.Gly877Ala)
NM_000081.3(LYST):c.2687A>G (p.Asn896Ser)
NM_000081.3(LYST):c.2700A>G (p.Leu900=)
NM_000081.3(LYST):c.2724C>T (p.Cys908=)
NM_000081.3(LYST):c.2725G>A (p.Val909Ile)
NM_000081.3(LYST):c.2769A>C (p.Ser923=) rs112739986
NM_000081.3(LYST):c.278C>G (p.Ala93Gly)
NM_000081.3(LYST):c.2806C>A (p.Pro936Thr)
NM_000081.3(LYST):c.280A>G (p.Thr94Ala)
NM_000081.3(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_000081.3(LYST):c.2828G>A (p.Cys943Tyr)
NM_000081.3(LYST):c.285T>G (p.Asp95Glu)
NM_000081.3(LYST):c.2870T>C (p.Met957Thr)
NM_000081.3(LYST):c.2908A>C (p.Ile970Leu)
NM_000081.3(LYST):c.2926G>A (p.Val976Met)
NM_000081.3(LYST):c.2945A>G (p.Tyr982Cys)
NM_000081.3(LYST):c.2946T>C (p.Tyr982=)
NM_000081.3(LYST):c.2963G>A (p.Arg988Gln)
NM_000081.3(LYST):c.3014A>G (p.His1005Arg)
NM_000081.3(LYST):c.3030A>G (p.Gly1010=)
NM_000081.3(LYST):c.3065A>G (p.Gln1022Arg)
NM_000081.3(LYST):c.3083C>G (p.Ser1028Cys) rs150636017
NM_000081.3(LYST):c.3091A>G (p.Lys1031Glu)
NM_000081.3(LYST):c.3134G>A (p.Ser1045Asn)
NM_000081.3(LYST):c.3137A>G (p.Asp1046Gly)
NM_000081.3(LYST):c.3160A>G (p.Ser1054Gly)
NM_000081.3(LYST):c.3167A>C (p.Lys1056Thr)
NM_000081.3(LYST):c.3203A>G (p.Gln1068Arg)
NM_000081.3(LYST):c.3217A>G (p.Ile1073Val)
NM_000081.3(LYST):c.3278G>A (p.Ser1093Asn)
NM_000081.3(LYST):c.3311G>A (p.Arg1104Gln) rs148299757
NM_000081.3(LYST):c.3370A>G (p.Met1124Val)
NM_000081.3(LYST):c.3394-14T>C rs372892911
NM_000081.3(LYST):c.3499G>A (p.Val1167Ile)
NM_000081.3(LYST):c.3536A>G (p.Asn1179Ser)
NM_000081.3(LYST):c.3573A>C (p.Glu1191Asp)
NM_000081.3(LYST):c.3613G>A (p.Glu1205Lys)
NM_000081.3(LYST):c.3616G>C (p.Asp1206His)
NM_000081.3(LYST):c.368A>G (p.His123Arg)
NM_000081.3(LYST):c.3697G>A (p.Glu1233Lys)
NM_000081.3(LYST):c.3712+12T>C
NM_000081.3(LYST):c.3746G>A (p.Ser1249Asn)
NM_000081.3(LYST):c.3757A>C (p.Ser1253Arg)
NM_000081.3(LYST):c.3775G>A (p.Glu1259Lys)
NM_000081.3(LYST):c.3834G>A (p.Leu1278=)
NM_000081.3(LYST):c.3898A>G (p.Ile1300Val)
NM_000081.3(LYST):c.3931A>G (p.Met1311Val)
NM_000081.3(LYST):c.4084T>G (p.Leu1362Val)
NM_000081.3(LYST):c.4108C>G (p.Pro1370Ala)
NM_000081.3(LYST):c.4135A>G (p.Ile1379Val)
NM_000081.3(LYST):c.4187C>G (p.Thr1396Ser)
NM_000081.3(LYST):c.422G>A (p.Arg141Gln)
NM_000081.3(LYST):c.4337G>A (p.Arg1446Gln)
NM_000081.3(LYST):c.4357A>G (p.Ile1453Val)
NM_000081.3(LYST):c.446T>C (p.Ile149Thr)
NM_000081.3(LYST):c.4487A>C (p.Lys1496Thr)
NM_000081.3(LYST):c.452A>G (p.His151Arg)
NM_000081.3(LYST):c.4545G>C (p.Glu1515Asp)
NM_000081.3(LYST):c.4548C>A (p.Ser1516Arg)
NM_000081.3(LYST):c.4566A>C (p.Ala1522=)
NM_000081.3(LYST):c.4670A>G (p.Asn1557Ser)
NM_000081.3(LYST):c.4688+6G>A
NM_000081.3(LYST):c.476G>A (p.Arg159Lys)
NM_000081.3(LYST):c.4904C>G (p.Thr1635Arg)
NM_000081.3(LYST):c.5033T>C (p.Val1678Ala)
NM_000081.3(LYST):c.5071C>T (p.Pro1691Ser)
NM_000081.3(LYST):c.5263A>G (p.Ile1755Val)
NM_000081.3(LYST):c.5291G>A (p.Gly1764Asp)
NM_000081.3(LYST):c.52C>T (p.Arg18Trp)
NM_000081.3(LYST):c.5533A>G (p.Asn1845Asp)
NM_000081.3(LYST):c.5549A>G (p.His1850Arg)
NM_000081.3(LYST):c.5590G>T (p.Val1864Leu)
NM_000081.3(LYST):c.5634+11A>G
NM_000081.3(LYST):c.5635-4A>G
NM_000081.3(LYST):c.5676G>A (p.Met1892Ile)
NM_000081.3(LYST):c.5833G>A (p.Ala1945Thr)
NM_000081.3(LYST):c.5920C>G (p.Gln1974Glu)
NM_000081.3(LYST):c.5957G>A (p.Arg1986Gln)
NM_000081.3(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.3(LYST):c.6149G>A (p.Arg2050Gln)
NM_000081.3(LYST):c.6185G>A (p.Gly2062Glu)
NM_000081.3(LYST):c.6188G>A (p.Arg2063Lys)
NM_000081.3(LYST):c.6238G>C (p.Ala2080Pro)
NM_000081.3(LYST):c.6266C>G (p.Ser2089Cys)
NM_000081.3(LYST):c.6291C>T (p.Ala2097=)
NM_000081.3(LYST):c.6292G>A (p.Ala2098Thr)
NM_000081.3(LYST):c.643C>T (p.Pro215Ser)
NM_000081.3(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.3(LYST):c.6460G>A (p.Asp2154Asn)
NM_000081.3(LYST):c.646C>T (p.Pro216Ser)
NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_000081.3(LYST):c.6656G>A (p.Gly2219Glu)
NM_000081.3(LYST):c.6673C>T (p.Arg2225Cys)
NM_000081.3(LYST):c.6682G>C (p.Asp2228His)
NM_000081.3(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_000081.3(LYST):c.6744A>G (p.Leu2248=)
NM_000081.3(LYST):c.6772G>C (p.Ala2258Pro)
NM_000081.3(LYST):c.6775G>A (p.Val2259Ile)
NM_000081.3(LYST):c.6812A>G (p.Asp2271Gly) rs112601869
NM_000081.3(LYST):c.6833A>G (p.Tyr2278Cys)
NM_000081.3(LYST):c.6863G>A (p.Arg2288Gln)
NM_000081.3(LYST):c.6898T>G (p.Leu2300Val)
NM_000081.3(LYST):c.7059+7G>A rs111764031
NM_000081.3(LYST):c.7181A>G (p.Glu2394Gly)
NM_000081.3(LYST):c.71T>C (p.Val24Ala)
NM_000081.3(LYST):c.7228G>A (p.Glu2410Lys)
NM_000081.3(LYST):c.7258G>A (p.Gly2420Arg)
NM_000081.3(LYST):c.7322A>C (p.Asn2441Thr)
NM_000081.3(LYST):c.7340C>T (p.Ala2447Val)
NM_000081.3(LYST):c.7350_7352TCT[1] (p.Leu2452del)
NM_000081.3(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_000081.3(LYST):c.7370C>A (p.Ser2457Tyr)
NM_000081.3(LYST):c.7385C>A (p.Ala2462Glu)
NM_000081.3(LYST):c.7430C>T (p.Thr2477Ile)
NM_000081.3(LYST):c.7439C>A (p.Ala2480Asp)
NM_000081.3(LYST):c.7457A>G (p.Lys2486Arg)
NM_000081.3(LYST):c.748A>G (p.Met250Val)
NM_000081.3(LYST):c.7506A>C (p.Gln2502His)
NM_000081.3(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_000081.3(LYST):c.7576C>T (p.Leu2526Phe)
NM_000081.3(LYST):c.7627+6A>T
NM_000081.3(LYST):c.7647G>A (p.Gln2549=)
NM_000081.3(LYST):c.7766G>A (p.Arg2589Gln)
NM_000081.3(LYST):c.7784C>T (p.Pro2595Leu)
NM_000081.3(LYST):c.7806A>G (p.Gln2602=)
NM_000081.3(LYST):c.7836A>G (p.Ser2612=)
NM_000081.3(LYST):c.7862T>C (p.Met2621Thr)
NM_000081.3(LYST):c.7957A>G (p.Arg2653Gly)
NM_000081.3(LYST):c.8214G>C (p.Glu2738Asp)
NM_000081.3(LYST):c.8222G>A (p.Arg2741Gln)
NM_000081.3(LYST):c.8258C>T (p.Ser2753Leu)
NM_000081.3(LYST):c.8328A>G (p.Ile2776Met)
NM_000081.3(LYST):c.8336A>G (p.Asp2779Gly)
NM_000081.3(LYST):c.8368A>C (p.Lys2790Gln)
NM_000081.3(LYST):c.8395A>G (p.Ile2799Val)
NM_000081.3(LYST):c.8426A>G (p.Glu2809Gly)
NM_000081.3(LYST):c.8438C>A (p.Thr2813Lys)
NM_000081.3(LYST):c.8535+7C>T
NM_000081.3(LYST):c.8537A>C (p.Glu2846Ala)
NM_000081.3(LYST):c.8560G>A (p.Glu2854Lys)
NM_000081.3(LYST):c.8571T>G (p.Asn2857Lys)
NM_000081.3(LYST):c.8572A>C (p.Lys2858Gln)
NM_000081.3(LYST):c.8629G>A (p.Asp2877Asn)
NM_000081.3(LYST):c.8657T>C (p.Ile2886Thr)
NM_000081.3(LYST):c.8742A>G (p.Lys2914=)
NM_000081.3(LYST):c.8801+15G>C
NM_000081.3(LYST):c.8806G>A (p.Val2936Ile) rs2753327
NM_000081.3(LYST):c.8818C>A (p.Pro2940Thr)
NM_000081.3(LYST):c.8960C>G (p.Pro2987Arg)
NM_000081.3(LYST):c.8980G>A (p.Glu2994Lys)
NM_000081.3(LYST):c.9017A>G (p.Lys3006Arg) rs140934482
NM_000081.3(LYST):c.901A>G (p.Ser301Gly)
NM_000081.3(LYST):c.9053G>A (p.Arg3018Gln)
NM_000081.3(LYST):c.9162+11G>A
NM_000081.3(LYST):c.916T>G (p.Leu306Val)
NM_000081.3(LYST):c.9327T>A (p.Asp3109Glu)
NM_000081.3(LYST):c.9332A>G (p.Tyr3111Cys)
NM_000081.3(LYST):c.9347C>A (p.Thr3116Lys)
NM_000081.3(LYST):c.9415C>A (p.Gln3139Lys)
NM_000081.3(LYST):c.9473A>G (p.Asn3158Ser)
NM_000081.3(LYST):c.9517T>C (p.Tyr3173His)
NM_000081.3(LYST):c.9520G>A (p.Val3174Ile) rs199672291
NM_000081.3(LYST):c.9529A>C (p.Thr3177Pro)
NM_000081.3(LYST):c.9542A>G (p.Asn3181Ser)
NM_000081.3(LYST):c.9552G>T (p.Leu3184Phe) rs556200563
NM_000081.3(LYST):c.9646C>T (p.Arg3216Cys)
NM_000081.3(LYST):c.9742G>A (p.Val3248Ile)
NM_000081.3(LYST):c.9811A>T (p.Thr3271Ser)
NM_000081.3(LYST):c.9823A>G (p.Thr3275Ala)
NM_000081.3(LYST):c.9839G>A (p.Arg3280Gln)
NM_000081.3(LYST):c.9896A>G (p.Tyr3299Cys)
NM_000081.3(LYST):c.9919C>T (p.Arg3307Cys)
NM_000081.3(LYST):c.9920G>A (p.Arg3307His)
NM_000081.3(LYST):c.9943C>T (p.Arg3315Cys)
NM_000081.3(LYST):c.9969C>T (p.His3323=)
NM_000081.3(LYST):c.9C>T (p.Thr3=) rs33998267
NM_000096.4(CP):c.*1081T>A rs188137938
NM_000096.4(CP):c.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*583T>C rs886058084
NM_000195.5(HPS1):c.*1005A>G rs186229582
NM_000195.5(HPS1):c.*1085G>A rs563447772
NM_000195.5(HPS1):c.*1215_*1217delinsTCC rs386746903
NM_000195.5(HPS1):c.*1235G>A rs886046584
NM_000195.5(HPS1):c.*1249G>A rs886046583
NM_000195.5(HPS1):c.*12C>T rs112544050
NM_000195.5(HPS1):c.*327G>A rs886046590
NM_000195.5(HPS1):c.*403G>A rs886046589
NM_000195.5(HPS1):c.*589G>A rs540367850
NM_000195.5(HPS1):c.*626C>T rs776700327
NM_000195.5(HPS1):c.*635T>C rs886046588
NM_000195.5(HPS1):c.*736C>T rs149708847
NM_000195.5(HPS1):c.*766G>T rs886046587
NM_000195.5(HPS1):c.*768A>G rs886046586
NM_000195.5(HPS1):c.*916G>A rs114082441
NM_000195.5(HPS1):c.*943C>T rs558066370
NM_000195.5(HPS1):c.*952T>G rs886046585
NM_000195.5(HPS1):c.-153del rs886046593
NM_000195.5(HPS1):c.-28G>A rs186783129
NM_000195.5(HPS1):c.-91T>A rs542654066
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu) rs142934882
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) rs201728087
NM_000195.5(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) rs200004304
NM_000195.5(HPS1):c.1887C>T (p.Pro629=) rs142347792
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) rs116698870
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg) rs554593853
NM_000195.5(HPS1):c.2058G>C (p.Gln686His) rs780183454
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp) rs3830014
NM_000195.5(HPS1):c.255+9A>G rs78927693
NM_000195.5(HPS1):c.256-4G>A rs372404024
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg) rs771121322
NM_000195.5(HPS1):c.366G>A (p.Leu122=) rs147269809
NM_000195.5(HPS1):c.54A>G (p.Thr18=) rs531947687
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp) rs757374077
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln) rs746626404
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu) rs773953162
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988
NM_000195.5(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg) rs886046592
NM_000259.3(MYO5A):c.3098T>G (p.Leu1033Trp)
NM_000275.3(OCA2):c.*166C>T rs182290687
NM_000275.3(OCA2):c.*21G>A rs369189827
NM_000275.3(OCA2):c.*300T>C rs776180839
NM_000275.3(OCA2):c.-109T>C rs886051027
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820
NM_000275.3(OCA2):c.1239+5G>C rs757119713
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile) rs549399707
NM_000275.3(OCA2):c.1326C>T (p.Asn442=) rs886051025
NM_000275.3(OCA2):c.1352C>A (p.Pro451His) rs886051024
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804
NM_000275.3(OCA2):c.1364+4C>T rs1800409
NM_000275.3(OCA2):c.1370G>T (p.Cys457Phe) rs886051023
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000275.3(OCA2):c.1504-12_1504-9del rs886051022
NM_000275.3(OCA2):c.1553T>A (p.Leu518His) rs886051021
NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter) rs779086242
NM_000275.3(OCA2):c.1785-7C>G rs375281082
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719
NM_000275.3(OCA2):c.2145C>G (p.Val715=) rs779836224
NM_000275.3(OCA2):c.216C>G (p.Leu72=) rs766072141
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658
NM_000275.3(OCA2):c.2322C>T (p.Phe774=) rs762388937
NM_000275.3(OCA2):c.2432+11A>G rs145577954
NM_000275.3(OCA2):c.48G>A (p.Ala16=) rs371834997
NM_000275.3(OCA2):c.588A>C (p.Leu196=) rs374350218
NM_000275.3(OCA2):c.594G>A (p.Pro198=) rs762764142
NM_000275.3(OCA2):c.648C>T (p.Ser216=) rs886051026
NM_000275.3(OCA2):c.666C>T (p.His222=) rs751309779
NM_000275.3(OCA2):c.681del (p.Leu228fs) rs1566803740
NM_000275.3(OCA2):c.85G>A (p.Ala29Thr) rs759291231
NM_000372.5(TYR):c.*230G>A rs532489606
NM_000372.5(TYR):c.-37G>A rs755069000
NM_000372.5(TYR):c.-41A>G rs886048744
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1270T>A (p.Ser424Thr) rs748618759
NM_000372.5(TYR):c.1366+4A>G rs61754398
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.191C>T (p.Pro64Leu) rs370798325
NM_000372.5(TYR):c.194T>C (p.Leu65Pro) rs886048745
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000372.5(TYR):c.705T>G (p.Tyr235Ter) rs138817690
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797
NM_000550.3(TYRP1):c.*259T>C rs76349729
NM_000550.3(TYRP1):c.*319_*320dup rs886063414
NM_000550.3(TYRP1):c.*458A>G rs549032453
NM_000550.3(TYRP1):c.*509C>A rs74941076
NM_000550.3(TYRP1):c.*568T>C rs142323339
NM_000550.3(TYRP1):c.*573T>G rs886063415
NM_000550.3(TYRP1):c.*591G>T rs886063416
NM_000550.3(TYRP1):c.*59A>C rs140364108
NM_000550.3(TYRP1):c.*955dup rs763340664
NM_000550.3(TYRP1):c.-119G>T rs147861369
NM_000550.3(TYRP1):c.-15C>G rs200678533
NM_000550.3(TYRP1):c.-167G>A rs181711630
NM_000550.3(TYRP1):c.-69G>T rs181350173
NM_000550.3(TYRP1):c.-6A>G rs200838609
NM_000550.3(TYRP1):c.-70C>T rs766836831
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=) rs145061390
NM_000550.3(TYRP1):c.1082-8G>A rs79992094
NM_000550.3(TYRP1):c.1082-9T>C rs144041081
NM_000550.3(TYRP1):c.1279T>C (p.Leu427=) rs148782717
NM_000550.3(TYRP1):c.1560A>G (p.Gln520=) rs773136421
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) rs61752864
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937
NM_000550.3(TYRP1):c.308G>A (p.Gly103Asp) rs761214982
NM_000550.3(TYRP1):c.527C>T (p.Thr176Met) rs886063413
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr) rs61758405
NM_000550.3(TYRP1):c.913+9C>T rs147268542
NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser) rs773285733
NM_001171.5(ABCC6):c.1424A>T (p.His475Leu) rs151187637
NM_001301365.1(LYST):c.-97-13dup
NM_001301365.1(LYST):c.11268-17dup
NM_001301365.1(LYST):c.2363+10dup
NM_001301365.1(LYST):c.4705A>C (p.Asn1569His)
NM_001301365.1(LYST):c.5719A>G (p.Ile1907Val)
NM_001301365.1(LYST):c.9045-13T>C
NM_001301365.1(LYST):c.9653_9654delinsTT (p.Gly3218Val)
NM_002386.3(MC1R):c.104G>A (p.Cys35Tyr) rs779504604
NM_002386.3(MC1R):c.112G>A (p.Val38Met) rs200050206
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.332C>T (p.Ala111Val) rs201489928
NM_002386.3(MC1R):c.583T>G (p.Phe195Val) rs377580634
NM_002386.3(MC1R):c.766C>T (p.Pro256Ser) rs200215218
NM_003664.4(AP3B1):c.*101T>C rs766029582
NM_003664.4(AP3B1):c.*141T>C rs753283084
NM_003664.4(AP3B1):c.*379A>G rs115124715
NM_003664.4(AP3B1):c.*447C>T rs886060768
NM_003664.4(AP3B1):c.*507G>A rs865863660
NM_003664.4(AP3B1):c.*556_*559delTAAA rs886060767
NM_003664.4(AP3B1):c.*69dup rs886060769
NM_003664.4(AP3B1):c.-115G>A rs886060776
NM_003664.4(AP3B1):c.1022G>A (p.Arg341His) rs141832130
NM_003664.4(AP3B1):c.1069A>G (p.Ile357Val) rs142025324
NM_003664.4(AP3B1):c.1159A>G (p.Thr387Ala)
NM_003664.4(AP3B1):c.1168-9C>T rs367648410
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)
NM_003664.4(AP3B1):c.1317T>G (p.Thr439=) rs75248449
NM_003664.4(AP3B1):c.1325G>A (p.Cys442Tyr)
NM_003664.4(AP3B1):c.1363G>A (p.Glu455Lys)
NM_003664.4(AP3B1):c.1364-11A>G rs759174401
NM_003664.4(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260
NM_003664.4(AP3B1):c.1392T>G (p.Val464=) rs886060774
NM_003664.4(AP3B1):c.1412T>A (p.Met471Lys) rs771964089
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)
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)
NM_003664.4(AP3B1):c.176A>G (p.Lys59Arg)
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.1868C>T (p.Ser623Phe)
NM_003664.4(AP3B1):c.196A>G (p.Ile66Val) rs779404585
NM_003664.4(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.4(AP3B1):c.2012C>T (p.Ser671Phe) rs886060773
NM_003664.4(AP3B1):c.2018A>G (p.Lys673Arg)
NM_003664.4(AP3B1):c.2093G>A (p.Ser698Asn) rs886060772
NM_003664.4(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178
NM_003664.4(AP3B1):c.2239A>G (p.Lys747Glu)
NM_003664.4(AP3B1):c.2340C>T (p.Ser780=) rs199599147
NM_003664.4(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037
NM_003664.4(AP3B1):c.2405A>G (p.Glu802Gly) rs886060771
NM_003664.4(AP3B1):c.2527A>G (p.Met843Val)
NM_003664.4(AP3B1):c.2548C>A (p.His850Asn)
NM_003664.4(AP3B1):c.2613C>T (p.His871=) rs144420604
NM_003664.4(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.4(AP3B1):c.2673G>C (p.Gln891His)
NM_003664.4(AP3B1):c.2709A>G (p.Gln903=)
NM_003664.4(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749
NM_003664.4(AP3B1):c.2765A>G (p.Lys922Arg) rs1554059568
NM_003664.4(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.4(AP3B1):c.2779G>A (p.Gly927Ser)
NM_003664.4(AP3B1):c.279+6G>A rs1269853831
NM_003664.4(AP3B1):c.2812T>C (p.Ser938Pro)
NM_003664.4(AP3B1):c.2880C>T (p.Ala960=) rs62001052
NM_003664.4(AP3B1):c.2890T>C (p.Leu964=) rs750377910
NM_003664.4(AP3B1):c.2900A>G (p.Lys967Arg)
NM_003664.4(AP3B1):c.2906A>G (p.Asp969Gly) rs886060770
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_003664.4(AP3B1):c.2932C>T (p.Pro978Ser)
NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) rs146503597
NM_003664.4(AP3B1):c.303C>T (p.Tyr101=) rs115747826
NM_003664.4(AP3B1):c.3131+5G>T rs191616060
NM_003664.4(AP3B1):c.3207G>A (p.Gln1069=) rs34089426
NM_003664.4(AP3B1):c.388C>T (p.Leu130=) rs138774723
NM_003664.4(AP3B1):c.38G>C (p.Gly13Ala)
NM_003664.4(AP3B1):c.519A>G (p.Ala173=) rs747459337
NM_003664.4(AP3B1):c.537-9A>G rs372285421
NM_003664.4(AP3B1):c.557A>C (p.Glu186Ala) rs778281326
NM_003664.4(AP3B1):c.720G>A (p.Gly240=) rs886060775
NM_003664.4(AP3B1):c.822C>T (p.Tyr274=) rs112652327
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.942G>A (p.Ala314=) rs146871001
NM_003664.4(AP3B1):c.976A>G (p.Ile326Val) rs758789954
NM_003664.4(AP3B1):c.97G>T (p.Ala33Ser)
NM_006177.5(NRL):c.448_466dup (p.Glu156fs) rs1555339028
NM_007216.4(HPS5):c.*1003_*1004del rs886048070
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_007216.4(HPS5):c.2495+15del rs886048076
NM_007216.4(HPS5):c.483-14del rs886048082
NM_012388.3(BLOC1S6):c.*1139G>A rs886051208
NM_012388.3(BLOC1S6):c.*1446G>A rs552878862
NM_012388.3(BLOC1S6):c.*165T>C rs181609658
NM_012388.3(BLOC1S6):c.*2007A>T rs183928015
NM_012388.3(BLOC1S6):c.*2022G>C rs188876635
NM_012388.3(BLOC1S6):c.*2043G>A rs146657000
NM_012388.3(BLOC1S6):c.*2295C>T rs140243429
NM_012388.3(BLOC1S6):c.*2509T>C rs564382292
NM_012388.3(BLOC1S6):c.*2586T>C rs886051209
NM_012388.3(BLOC1S6):c.*274_*275TG[1] rs766946085
NM_012388.3(BLOC1S6):c.*2815A>C rs188301800
NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[4] rs376870196
NM_012388.3(BLOC1S6):c.*508G>C rs142031361
NM_012388.3(BLOC1S6):c.*589T>G rs753529567
NM_012388.3(BLOC1S6):c.*669C>T rs764795185
NM_012388.3(BLOC1S6):c.*865G>A rs886051207
NM_012388.3(BLOC1S6):c.-118C>T rs536657988
NM_012388.3(BLOC1S6):c.-120C>T rs2304898
NM_012388.3(BLOC1S6):c.-134G>A rs141234222
NM_012388.3(BLOC1S6):c.-135C>T rs373895163
NM_012388.3(BLOC1S6):c.-52C>T rs370519880
NM_012388.3(BLOC1S6):c.-78C>A rs758362537
NM_012388.3(BLOC1S6):c.131T>C (p.Ile44Thr)
NM_012388.3(BLOC1S6):c.182T>G (p.Leu61Trp)
NM_012388.3(BLOC1S6):c.196A>G (p.Arg66Gly)
NM_012388.3(BLOC1S6):c.205C>G (p.Gln69Glu)
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.432A>G (p.Gln144=) rs886051205
NM_012388.3(BLOC1S6):c.501A>T (p.Arg167Ser)
NM_012388.3(BLOC1S6):c.79C>T (p.Pro27Ser)
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_016180.4(SLC45A2):c.*29C>G rs886060518
NM_016180.5(SLC45A2):c.1032+9C>T rs113928135
NM_016180.5(SLC45A2):c.1074_1075AG[1] (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1089C>T (p.Tyr363=) rs148156477
NM_016180.5(SLC45A2):c.1090G>A (p.Glu364Lys) rs201140684
NM_016180.5(SLC45A2):c.1156+7C>T rs767910207
NM_016180.5(SLC45A2):c.1157-10C>T rs371152353
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704
NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys) rs142175557
NM_016180.5(SLC45A2):c.1533G>A (p.Ala511=) rs373174326
NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs) rs780732891
NM_016180.5(SLC45A2):c.187G>T (p.Val63Leu)
NM_016180.5(SLC45A2):c.232C>A (p.Pro78Thr) rs886060520
NM_016180.5(SLC45A2):c.372T>A (p.Ala124=) rs886060519
NM_016180.5(SLC45A2):c.627A>G (p.Arg209=) rs755956613
NM_022081.5(HPS4):c.*1024_*1028del rs886057313
NM_022081.5(HPS4):c.*1120C>T rs886057312
NM_022081.5(HPS4):c.*1207_*1227delinsC rs886057310
NM_022081.5(HPS4):c.*1207_*1227delinsCGC rs886057310
NM_022081.5(HPS4):c.*1223_*1228delTGTGTG rs134978
NM_022081.5(HPS4):c.*1223_*1238del rs886057303
NM_022081.5(HPS4):c.*1225T>C rs886057311
NM_022081.5(HPS4):c.*1225_*1228delTGTG rs134978
NM_022081.5(HPS4):c.*1227T>C rs7293228
NM_022081.5(HPS4):c.*1227_*1228dupTG rs134978
NM_022081.5(HPS4):c.*1227_*1236del rs755364858
NM_022081.5(HPS4):c.*1229C>T rs6147576
NM_022081.5(HPS4):c.*1229_*1237delinsTGT rs886057304
NM_022081.5(HPS4):c.*1229_*1237delinsTGTGT rs886057304
NM_022081.5(HPS4):c.*1231C>T rs56271395
NM_022081.5(HPS4):c.*1236_*1237insTAA rs1555885488
NM_022081.5(HPS4):c.*1237C>T rs886057305
NM_022081.5(HPS4):c.*1239_*1246delCGCGCGCG rs10573454
NM_022081.5(HPS4):c.*1241_*1246delCGCGCG rs10573454
NM_022081.5(HPS4):c.*1243_*1246delCGCG rs10573454
NM_022081.5(HPS4):c.*1245_*1246delCG rs10573454
NM_022081.5(HPS4):c.*1250C>T rs7291576
NM_022081.5(HPS4):c.*1253G>A rs534586940
NM_022081.5(HPS4):c.*1256C>T rs886057299
NM_022081.5(HPS4):c.*1359A>T rs886057298
NM_022081.5(HPS4):c.*1576C>T rs886057297
NM_022081.5(HPS4):c.*1594G>C rs886057296
NM_022081.5(HPS4):c.*1687A>G rs3752588
NM_022081.5(HPS4):c.*1752C>G rs886057295
NM_022081.5(HPS4):c.*1762G>A rs139974836
NM_022081.5(HPS4):c.*197G>T rs550753111
NM_022081.5(HPS4):c.*369C>T rs886057316
NM_022081.5(HPS4):c.*391G>A rs886057315
NM_022081.5(HPS4):c.*515G>C rs886057314
NM_022081.5(HPS4):c.*751G>A rs190837977
NM_022081.5(HPS4):c.-116C>T rs886057321
NM_022081.5(HPS4):c.-185A>G rs188205202
NM_022081.5(HPS4):c.-395A>C rs147631281
NM_022081.5(HPS4):c.-42A>G rs369803062
NM_022081.5(HPS4):c.-479+5G>A rs886057322
NM_022081.5(HPS4):c.-523G>T rs886057323
NM_022081.5(HPS4):c.-554C>T rs115916720
NM_022081.5(HPS4):c.-585T>G rs187762406
NM_022081.5(HPS4):c.-622G>C rs886057324
NM_022081.5(HPS4):c.-634C>T rs886057325
NM_022081.5(HPS4):c.-660C>T rs34019374
NM_022081.5(HPS4):c.-661G>T rs753668169
NM_022081.5(HPS4):c.1192A>C (p.Arg398=) rs375655372
NM_022081.5(HPS4):c.1232G>A (p.Ser411Asn) rs201043011
NM_022081.5(HPS4):c.1479T>A (p.Asp493Glu) rs777570870
NM_022081.5(HPS4):c.1535C>T (p.Ser512Leu) rs150216540
NM_022081.5(HPS4):c.1543T>C (p.Cys515Arg) rs148134252
NM_022081.5(HPS4):c.15C>T (p.Thr5=) rs144622501
NM_022081.5(HPS4):c.1641C>T (p.Cys547=) rs199740072
NM_022081.5(HPS4):c.1680G>A (p.Pro560=) rs527653764
NM_022081.5(HPS4):c.1692C>T (p.Asp564=) rs759632995
NM_022081.5(HPS4):c.1700C>T (p.Ala567Val) rs140234219
NM_022081.5(HPS4):c.1747G>A (p.Glu583Lys) rs145481980
NM_022081.5(HPS4):c.177A>C (p.Gly59=) rs886057320
NM_022081.5(HPS4):c.1857G>A (p.Pro619=) rs373421312
NM_022081.5(HPS4):c.1959T>C (p.Asn653=) rs202120615
NM_022081.5(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.5(HPS4):c.373C>G (p.Leu125Val) rs180729981
NM_022081.5(HPS4):c.608C>T (p.Thr203Ile) rs886057319
NM_022081.5(HPS4):c.617C>T (p.Pro206Leu) rs746492833
NM_022081.5(HPS4):c.687G>A (p.Glu229=) rs758547221
NM_022081.5(HPS4):c.706+15G>T rs762647750
NM_022081.5(HPS4):c.710C>T (p.Ala237Val) rs77597168
NM_022081.5(HPS4):c.751A>T (p.Thr251Ser) rs34962745
NM_022081.5(HPS4):c.765C>T (p.Ala255=) rs886057318
NM_022081.5(HPS4):c.81G>A (p.Lys27=) rs763708665
NM_022081.5(HPS4):c.877C>G (p.Leu293Val) rs886057317
NM_022081.5(HPS4):c.922A>G (p.Thr308Ala) rs150057646
NM_022081.5(HPS4):c.931C>A (p.Pro311Thr) rs140732502
NM_022081.5(HPS4):c.958G>C (p.Asp320His) rs143965829
NM_024747.5(HPS6):c.1039G>A (p.Val347Ile) rs139517839
NM_024747.5(HPS6):c.105T>C (p.Arg35=) rs573488604
NM_024747.5(HPS6):c.112C>G (p.Pro38Ala) rs746813506
NM_024747.5(HPS6):c.1181T>C (p.Val394Ala) rs146521433
NM_024747.5(HPS6):c.1201G>A (p.Asp401Asn) rs886046651
NM_024747.5(HPS6):c.138G>A (p.Leu46=) rs886046648
NM_024747.5(HPS6):c.1498G>A (p.Gly500Arg)
NM_024747.5(HPS6):c.1606A>G (p.Arg536Gly) rs757589760
NM_024747.5(HPS6):c.1779G>A (p.Pro593=) rs77529785
NM_024747.5(HPS6):c.194C>G (p.Ala65Gly) rs886046649
NM_024747.5(HPS6):c.2181A>G (p.Ala727=) rs199518658
NM_024747.5(HPS6):c.2231G>T (p.Gly744Val) rs770148492
NM_024747.5(HPS6):c.2307G>A (p.Pro769=) rs553794194
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.298C>T (p.Leu100=) rs886046650
NM_024747.5(HPS6):c.337C>T (p.Arg113Trp) rs371307947
NM_024747.5(HPS6):c.727C>A (p.Pro243Thr) rs767667481
NM_032122.4(DTNBP1):c.*138A>G rs886061222
NM_032122.4(DTNBP1):c.*151_*152dup rs555440397
NM_032122.4(DTNBP1):c.*2T>C rs201409652
NM_032122.4(DTNBP1):c.-109G>A rs559661829
NM_032122.4(DTNBP1):c.-142G>A rs530331862
NM_032122.4(DTNBP1):c.-159G>A rs886061227
NM_032122.4(DTNBP1):c.1000A>C (p.Thr334Pro) rs886061223
NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs) rs752074481
NM_032122.4(DTNBP1):c.1015_1016AG[2] (p.Glu340fs) rs752074481
NM_032122.4(DTNBP1):c.255G>T (p.Ala85=) rs200096549
NM_032122.4(DTNBP1):c.276A>G (p.Thr92=) rs148092520
NM_032122.4(DTNBP1):c.355+10A>G rs368923800
NM_032122.4(DTNBP1):c.438A>G (p.Arg146=) rs369015562
NM_032122.4(DTNBP1):c.487A>C (p.Arg163=) rs146546977
NM_032122.4(DTNBP1):c.489-12_489-8del rs199770715
NM_032122.4(DTNBP1):c.489-21dup rs199770715
NM_032122.4(DTNBP1):c.489-8del rs199770715
NM_032122.4(DTNBP1):c.532G>T (p.Ala178Ser) rs75704383
NM_032122.4(DTNBP1):c.667+3G>A rs755341865
NM_032122.4(DTNBP1):c.668-14del rs886061225
NM_032122.4(DTNBP1):c.668-8A>G rs757305528
NM_032122.4(DTNBP1):c.741G>A (p.Ser247=) rs886061224
NM_032122.4(DTNBP1):c.812-13C>T rs377254012
NM_032383.4(HPS3):c.-108C>T rs886058074
NM_032383.5(HPS3):c.*129_*130insGC rs886058082
NM_032383.5(HPS3):c.*135T>C rs375383865
NM_032383.5(HPS3):c.*170C>T rs182666670
NM_032383.5(HPS3):c.*239G>A rs886058083
NM_032383.5(HPS3):c.*920T>C rs561191589
NM_032383.5(HPS3):c.*96T>A rs879086473
NM_032383.5(HPS3):c.*96_*97TC[3] rs1553756780
NM_032383.5(HPS3):c.*96_*97insATCACA rs374839757
NM_032383.5(HPS3):c.*97_*98CA[16] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[17] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[20] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[21] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[22] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[23] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[25] rs113015797
NM_032383.5(HPS3):c.*97_*98insTCACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCTCACAC rs72453449
NM_032383.5(HPS3):c.-43C>A rs375227018
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) rs749726836
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) rs886058078
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) rs775762509
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys) rs529838933
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) rs138987987
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249
NM_032383.5(HPS3):c.2224G>A (p.Val742Met) rs886058079
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) rs202157837
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346
NM_032383.5(HPS3):c.571G>A (p.Val191Ile) rs779612018
NM_032383.5(HPS3):c.573T>C (p.Val191=) rs746331416
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser) rs886058075
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.5(HPS3):c.884+11_884+12insT rs886058076
NM_032383.5(HPS3):c.884+21_884+25dup rs10693502
NM_032383.5(HPS3):c.884+22_884+25dup rs10693502
NM_032383.5(HPS3):c.884+24_884+25dup rs10693502
NM_181507.1(HPS5):c.*1023T>G rs886048069
NM_181507.1(HPS5):c.*182C>T rs886048074
NM_181507.1(HPS5):c.*362G>A rs148862838
NM_181507.1(HPS5):c.*655A>C rs886048073
NM_181507.1(HPS5):c.*688A>G rs145507598
NM_181507.1(HPS5):c.*70C>T rs371535842
NM_181507.1(HPS5):c.*812A>C rs755078355
NM_181507.1(HPS5):c.*956T>G rs886048072
NM_181507.1(HPS5):c.*960T>A rs886048071
NM_181507.1(HPS5):c.-197C>T rs886048085
NM_181507.1(HPS5):c.-217G>A rs761585857
NM_181507.1(HPS5):c.-263A>G rs886048086
NM_181507.1(HPS5):c.-64A>G rs886048084
NM_181507.1(HPS5):c.-91C>G rs4150527
NM_181507.1(HPS5):c.1075C>T (p.Arg359Cys) rs143073506
NM_181507.1(HPS5):c.1076G>A (p.Arg359His) rs774619545
NM_181507.1(HPS5):c.1123C>G (p.Arg375Gly) rs761598432
NM_181507.1(HPS5):c.1475T>A (p.Leu492Gln) rs190883305
NM_181507.1(HPS5):c.1479A>G (p.Pro493=) rs886048081
NM_181507.1(HPS5):c.1496C>T (p.Ser499Leu) rs756408229
NM_181507.1(HPS5):c.1501G>A (p.Gly501Arg) rs143784823
NM_181507.1(HPS5):c.1510+3G>A rs886048080
NM_181507.1(HPS5):c.1549A>C (p.Lys517Gln) rs770838422
NM_181507.1(HPS5):c.1609G>T (p.Val537Leu) rs149677540
NM_181507.1(HPS5):c.163G>A (p.Gly55Arg) rs774361456
NM_181507.1(HPS5):c.1785-9C>A rs886048079
NM_181507.1(HPS5):c.1837C>A (p.Leu613Ile) rs190221223
NM_181507.1(HPS5):c.1900G>A (p.Glu634Lys) rs143204089
NM_181507.1(HPS5):c.2144A>G (p.Glu715Gly) rs886048078
NM_181507.1(HPS5):c.2200C>T (p.Arg734Trp) rs752089199
NM_181507.1(HPS5):c.2221_2223ACA[1] (p.Thr742del) rs886048077
NM_181507.1(HPS5):c.2247A>G (p.Val749=) rs139004989
NM_181507.1(HPS5):c.241G>A (p.Ala81Thr) rs147053126
NM_181507.1(HPS5):c.2441-8T>C rs144196437
NM_181507.1(HPS5):c.2461G>T (p.Val821Leu) rs373228021
NM_181507.1(HPS5):c.2521G>T (p.Val841Phe) rs142090060
NM_181507.1(HPS5):c.2562-14G>C rs199999276
NM_181507.1(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.1(HPS5):c.2718-12A>G
NM_181507.1(HPS5):c.2838-13T>C rs377293025
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.1(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184
NM_181507.1(HPS5):c.3076G>A (p.Val1026Met) rs369368194
NM_181507.1(HPS5):c.309A>G (p.Glu103=) rs77722090
NM_181507.1(HPS5):c.3214G>A (p.Ala1072Thr) rs886048075
NM_181507.1(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179
NM_181507.1(HPS5):c.3259C>T (p.Leu1087=) rs868410563
NM_181507.1(HPS5):c.3297C>T (p.Cys1099=) rs139039126
NM_181507.1(HPS5):c.345G>A (p.Met115Ile) rs149229493
NM_181507.1(HPS5):c.986-5C>T rs201439984
NM_183235.3(RAB27A):c.*1156T>G rs747438491
NM_183235.3(RAB27A):c.*1170T>G rs574506558
NM_183235.3(RAB27A):c.*121A>G rs886051316
NM_183235.3(RAB27A):c.*1296T>G rs560689599
NM_183235.3(RAB27A):c.*1473T>C rs568895039
NM_183235.3(RAB27A):c.*1485G>A rs886051308
NM_183235.3(RAB27A):c.*1612dup rs886051307
NM_183235.3(RAB27A):c.*162G>C rs886051315
NM_183235.3(RAB27A):c.*1672T>C rs886051306
NM_183235.3(RAB27A):c.*1678T>A rs540548388
NM_183235.3(RAB27A):c.*1863C>T rs566144766
NM_183235.3(RAB27A):c.*1878T>C rs552625680
NM_183235.3(RAB27A):c.*1915_*1920delinsTAAATAAAT rs886051305
NM_183235.3(RAB27A):c.*1922_*1923insTAA rs555244731
NM_183235.3(RAB27A):c.*2241_*2247del rs565165091
NM_183235.3(RAB27A):c.*2334C>A rs886051304
NM_183235.3(RAB27A):c.*388G>C rs886051314
NM_183235.3(RAB27A):c.*425G>A rs886051313
NM_183235.3(RAB27A):c.*561A>T rs886051312
NM_183235.3(RAB27A):c.*723C>T rs886051311
NM_183235.3(RAB27A):c.*730T>C rs886051310
NM_183235.3(RAB27A):c.*858G>A rs886051309
NM_183235.3(RAB27A):c.-142-46A>G rs8031271
NM_183235.3(RAB27A):c.-58A>G rs572723752
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.213G>T (p.Gln71His) rs776920896
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val)
NM_183235.3(RAB27A):c.343+3_343+6del rs886051317
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.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.551G>A (p.Arg184Gln)
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)
NM_183235.3(RAB27A):c.620C>T (p.Thr207Met)
NM_183235.3(RAB27A):c.621G>A (p.Thr207=)
NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg)
NM_212550.4(BLOC1S3):c.*1253C>T rs576936281
NM_212550.4(BLOC1S3):c.*155_*156insAA rs570559399
NM_212550.4(BLOC1S3):c.*157A>G rs886054492
NM_212550.4(BLOC1S3):c.*1869G>A rs184044224
NM_212550.4(BLOC1S3):c.*31T>C rs777965410
NM_212550.4(BLOC1S3):c.*331T>A rs747825460
NM_212550.4(BLOC1S3):c.*389G>A rs117001334
NM_212550.4(BLOC1S3):c.*553A>T rs541332923
NM_212550.4(BLOC1S3):c.*69G>A rs886054491
NM_212550.4(BLOC1S3):c.-42C>T rs543407501
NM_212550.4(BLOC1S3):c.-7C>G rs200767686
NM_212550.4(BLOC1S3):c.17G>A (p.Arg6His) rs145609489
NM_212550.4(BLOC1S3):c.205C>T (p.Pro69Ser) rs776029125
NM_212550.4(BLOC1S3):c.234G>A (p.Arg78=) rs886054489
NM_212550.4(BLOC1S3):c.311C>G (p.Pro104Arg) rs886054490
NM_212550.4(BLOC1S3):c.339G>A (p.Leu113=) rs546645333
NM_212550.4(BLOC1S3):c.366C>T (p.His122=) rs571269735
NM_212550.4(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup)
NM_212550.4(BLOC1S3):c.478G>T (p.Val160Leu) rs201502372
NM_212550.4(BLOC1S3):c.507G>A (p.Ala169=) rs756965386
NM_212550.4(BLOC1S3):c.6G>T (p.Ala2=) rs746634818

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.