ClinVar Miner

List of variants studied for Hermansky Pudlak syndrome 2

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Total variants: 59
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HGVS dbSNP
AP3B1, 1-BP INS, 1618G
AP3B1, IVS14DS, T-C, +6
NC_000005.9:g.(?_77536666)_(77590423_?)dup
NM_001271769.2(AP3B1):c.2873_2875CTG[1] (p.Ala959del) rs111935323
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.1168_1230del63 (p.Leu390_Gln410del) rs1554072100
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.1412T>A (p.Met471Lys) rs771964089
NM_003664.4(AP3B1):c.1421C>T (p.Ala474Val)
NM_003664.4(AP3B1):c.1474-7072_1650+921del
NM_003664.4(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
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.1739T>G (p.Leu580Arg) rs121908904
NM_003664.4(AP3B1):c.1747C>G (p.Pro583Ala)
NM_003664.4(AP3B1):c.1748C>T (p.Pro583Leu) rs148023800
NM_003664.4(AP3B1):c.1754del (p.Val585fs) rs869312836
NM_003664.4(AP3B1):c.176A>G (p.Lys59Arg)
NM_003664.4(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.4(AP3B1):c.1839_1842delTAGA rs869312839
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.1868C>T (p.Ser623Phe)
NM_003664.4(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
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.2661C>A (p.Phe887Leu) rs139344924
NM_003664.4(AP3B1):c.2673G>C (p.Gln891His) rs770455413
NM_003664.4(AP3B1):c.2702C>G (p.Ser901Cys) rs869312835
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.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.2915A>G (p.Asn972Ser) rs139968311
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.716G>A (p.Trp239Ter) rs869312837
NM_003664.4(AP3B1):c.823G>A (p.Glu275Lys)
NM_003664.4(AP3B1):c.869C>T (p.Pro290Leu) rs759296897
NM_003664.4(AP3B1):c.904A>T (p.Arg302Ter) rs121908905
NM_003664.4(AP3B1):c.929G>C (p.Ser310Thr)
NM_003664.4(AP3B1):c.97G>T (p.Ala33Ser)
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)

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