ClinVar Miner

List of variants reported as uncertain significance for albinism by Invitae

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 108
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HGVS dbSNP
NM_000081.3(LYST):c.10174G>A (p.Glu3392Lys)
NM_000081.3(LYST):c.10235G>A (p.Arg3412His)
NM_000081.3(LYST):c.10346G>A (p.Arg3449Gln)
NM_000081.3(LYST):c.10392A>G (p.Ile3464Met)
NM_000081.3(LYST):c.10444G>A (p.Val3482Met)
NM_000081.3(LYST):c.10459C>G (p.Gln3487Glu)
NM_000081.3(LYST):c.10669G>T (p.Val3557Leu)
NM_000081.3(LYST):c.10684A>C (p.Ser3562Arg)
NM_000081.3(LYST):c.10817T>C (p.Met3606Thr)
NM_000081.3(LYST):c.1111C>T (p.Pro371Ser)
NM_000081.3(LYST):c.11278T>C (p.Ser3760Pro)
NM_000081.3(LYST):c.11354G>A (p.Arg3785His) rs370173269
NM_000081.3(LYST):c.11401G>C (p.Gly3801Arg)
NM_000081.3(LYST):c.143A>G (p.His48Arg)
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.1664A>C (p.His555Pro)
NM_000081.3(LYST):c.1829A>T (p.His610Leu)
NM_000081.3(LYST):c.1940T>G (p.Leu647Arg)
NM_000081.3(LYST):c.1996A>G (p.Ser666Gly)
NM_000081.3(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.3(LYST):c.2443C>T (p.His815Tyr)
NM_000081.3(LYST):c.2455G>A (p.Ala819Thr)
NM_000081.3(LYST):c.2480T>A (p.Leu827Gln)
NM_000081.3(LYST):c.2828G>A (p.Cys943Tyr)
NM_000081.3(LYST):c.285T>G (p.Asp95Glu)
NM_000081.3(LYST):c.2926G>A (p.Val976Met)
NM_000081.3(LYST):c.2963G>A (p.Arg988Gln)
NM_000081.3(LYST):c.3014A>G (p.His1005Arg)
NM_000081.3(LYST):c.3065A>G (p.Gln1022Arg)
NM_000081.3(LYST):c.3137A>G (p.Asp1046Gly)
NM_000081.3(LYST):c.3217A>G (p.Ile1073Val)
NM_000081.3(LYST):c.3311G>A (p.Arg1104Gln) rs148299757
NM_000081.3(LYST):c.3370A>G (p.Met1124Val)
NM_000081.3(LYST):c.3746G>A (p.Ser1249Asn)
NM_000081.3(LYST):c.3775G>A (p.Glu1259Lys)
NM_000081.3(LYST):c.3898A>G (p.Ile1300Val)
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.4487A>C (p.Lys1496Thr)
NM_000081.3(LYST):c.4545G>C (p.Glu1515Asp)
NM_000081.3(LYST):c.4548C>A (p.Ser1516Arg)
NM_000081.3(LYST):c.4670A>G (p.Asn1557Ser)
NM_000081.3(LYST):c.4688+6G>A
NM_000081.3(LYST):c.4705A>C (p.Asn1569His)
NM_000081.3(LYST):c.476G>A (p.Arg159Lys)
NM_000081.3(LYST):c.5033T>C (p.Val1678Ala)
NM_000081.3(LYST):c.5533A>G (p.Asn1845Asp)
NM_000081.3(LYST):c.5719A>G (p.Ile1907Val)
NM_000081.3(LYST):c.5833G>A (p.Ala1945Thr)
NM_000081.3(LYST):c.6238G>C (p.Ala2080Pro)
NM_000081.3(LYST):c.6266C>G (p.Ser2089Cys)
NM_000081.3(LYST):c.6460G>A (p.Asp2154Asn)
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.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.7370C>A (p.Ser2457Tyr)
NM_000081.3(LYST):c.7385C>A (p.Ala2462Glu)
NM_000081.3(LYST):c.7439C>A (p.Ala2480Asp)
NM_000081.3(LYST):c.7784C>T (p.Pro2595Leu)
NM_000081.3(LYST):c.7862T>C (p.Met2621Thr)
NM_000081.3(LYST):c.8258C>T (p.Ser2753Leu)
NM_000081.3(LYST):c.8336A>G (p.Asp2779Gly)
NM_000081.3(LYST):c.8426A>G (p.Glu2809Gly)
NM_000081.3(LYST):c.8560G>A (p.Glu2854Lys)
NM_000081.3(LYST):c.8571T>G (p.Asn2857Lys)
NM_000081.3(LYST):c.8629G>A (p.Asp2877Asn)
NM_000081.3(LYST):c.8657T>C (p.Ile2886Thr)
NM_000081.3(LYST):c.8806G>A (p.Val2936Ile) rs2753327
NM_000081.3(LYST):c.9017A>G (p.Lys3006Arg) rs140934482
NM_000081.3(LYST):c.901A>G (p.Ser301Gly)
NM_000081.3(LYST):c.9920G>A (p.Arg3307His)
NM_000081.3(LYST):c.9943C>T (p.Arg3315Cys)
NM_003664.4(AP3B1):c.1022G>A (p.Arg341His) rs141832130
NM_003664.4(AP3B1):c.1159A>G (p.Thr387Ala)
NM_003664.4(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996
NM_003664.4(AP3B1):c.1292G>A (p.Cys431Tyr)
NM_003664.4(AP3B1):c.1679A>G (p.Asn560Ser)
NM_003664.4(AP3B1):c.1718G>A (p.Arg573His)
NM_003664.4(AP3B1):c.1748C>T (p.Pro583Leu)
NM_003664.4(AP3B1):c.2018A>G (p.Lys673Arg)
NM_003664.4(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178
NM_003664.4(AP3B1):c.2673G>C (p.Gln891His)
NM_003664.4(AP3B1):c.2765A>G (p.Lys922Arg) rs1554059568
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.3131+5G>T rs191616060
NM_003664.4(AP3B1):c.869C>T (p.Pro290Leu) rs759296897
NM_004580.4(RAB27A):c.17A>G (p.Tyr6Cys) rs145253993
NM_004580.4(RAB27A):c.275C>T (p.Ala92Val)
NM_004580.4(RAB27A):c.343+6delT
NM_004580.4(RAB27A):c.365A>T (p.Tyr122Phe) rs1259290779
NM_004580.4(RAB27A):c.418C>G (p.Gln140Glu) rs150463407
NM_004580.4(RAB27A):c.526A>T (p.Met176Leu) rs757760608
NM_004580.4(RAB27A):c.551G>A (p.Arg184Gln)
NM_004580.4(RAB27A):c.620C>T (p.Thr207Met)
NM_004580.4(RAB27A):c.621G>A (p.Thr207=)
NM_012388.3(BLOC1S6):c.182T>G (p.Leu61Trp)
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116
NM_012388.3(BLOC1S6):c.79C>T (p.Pro27Ser)

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