ClinVar Miner

List of variants in gene AP3B1 reported as uncertain significance for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP
NC_000005.9:g.(?_77536666)_(77590423_?)dup
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.*69dupT 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)

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