ClinVar Miner

List of variants in gene AP3B1 reported as benign for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_003664.4(AP3B1):c.*107T>A rs11552314
NM_003664.4(AP3B1):c.1038T>C (p.Asn346=) rs4532349
NM_003664.4(AP3B1):c.1040+9T>A rs201876461
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.1317T>G (p.Thr439=) rs75248449
NM_003664.4(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260
NM_003664.4(AP3B1):c.1754T>A (p.Val585Glu) rs6453373
NM_003664.4(AP3B1):c.2016T>C (p.Ala672=) rs42360
NM_003664.4(AP3B1):c.2112C>T (p.Gly704=) rs35976098
NM_003664.4(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050
NM_003664.4(AP3B1):c.2409_2411delGAA (p.Lys804del) rs199702315
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.2730T>C (p.Thr910=) rs143527588
NM_003664.4(AP3B1):c.280-6dupT rs5868908
NM_003664.4(AP3B1):c.2810-4C>T rs115340604
NM_003664.4(AP3B1):c.2880C>T (p.Ala960=) rs62001052
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) rs146503597
NM_003664.4(AP3B1):c.3023_3025delCTG (p.Ala1008del) rs111935323
NM_003664.4(AP3B1):c.3207G>A (p.Gln1069=) rs34089426
NM_003664.4(AP3B1):c.339A>C (p.Ala113=) rs7706167
NM_003664.4(AP3B1):c.687A>G (p.Leu229=) rs35496909

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