ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP
NC_000005.10:g.(?_78020672)_(78089519_?)del
NC_000005.10:g.78294705G>C
NC_000005.9:g.(?_77536666)_(77590423_?)dup
NM_001271769.2(AP3B1):c.*552_*555TAAA[1] rs886060767
NM_003664.4(AP3B1):c.*101T>C rs766029582
NM_003664.4(AP3B1):c.*141T>C rs753283084
NM_003664.4(AP3B1):c.*447C>T rs886060768
NM_003664.4(AP3B1):c.*507G>A rs865863660
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) rs762030946
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) rs759936403
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) rs1032054339
NM_003664.4(AP3B1):c.1343G>A (p.Cys448Tyr) rs201877252
NM_003664.4(AP3B1):c.1363G>A (p.Glu455Lys) rs1204234337
NM_003664.4(AP3B1):c.1364-11A>G rs759174401
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) rs191850940
NM_003664.4(AP3B1):c.1675T>A (p.Leu559Ile) rs770281960
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.1747C>G (p.Pro583Ala) rs1580385068
NM_003664.4(AP3B1):c.1748C>T (p.Pro583Leu) rs148023800
NM_003664.4(AP3B1):c.176A>G (p.Lys59Arg) rs1300050218
NM_003664.4(AP3B1):c.1868C>T (p.Ser623Phe) rs755372821
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) rs763619135
NM_003664.4(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033
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) rs201886263
NM_003664.4(AP3B1):c.2310C>T (p.Asp770=) rs142938290
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) rs201609994
NM_003664.4(AP3B1):c.2548C>A (p.His850Asn) rs201936976
NM_003664.4(AP3B1):c.2673G>C (p.Gln891His) rs770455413
NM_003664.4(AP3B1):c.2709A>G (p.Gln903=) rs774631707
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.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.2890T>C (p.Leu964=) rs750377910
NM_003664.4(AP3B1):c.2900A>G (p.Lys967Arg) rs766616397
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) rs1580247322
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) rs139760966
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) rs140209190
NM_003664.4(AP3B1):c.869C>T (p.Pro290Leu) rs759296897
NM_003664.4(AP3B1):c.929G>C (p.Ser310Thr) rs778226822
NM_003664.4(AP3B1):c.976A>G (p.Ile326Val) rs758789954
NM_003664.4(AP3B1):c.97G>T (p.Ala33Ser) rs773073407
NM_003664.5(AP3B1):c.*191C>G
NM_003664.5(AP3B1):c.*380G>A
NM_003664.5(AP3B1):c.*380G>C
NM_003664.5(AP3B1):c.*482C>T
NM_003664.5(AP3B1):c.-83G>C
NM_003664.5(AP3B1):c.1035C>A (p.Ser345Arg)
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala)
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile)
NM_003664.5(AP3B1):c.1176T>G (p.Ile392Met)
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val)
NM_003664.5(AP3B1):c.1220G>A (p.Arg407Gln)
NM_003664.5(AP3B1):c.1241A>C (p.Lys414Thr)
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=)
NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val)
NM_003664.5(AP3B1):c.1301A>C (p.Asn434Thr)
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp)
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449
NM_003664.5(AP3B1):c.131A>G (p.Asn44Ser)
NM_003664.5(AP3B1):c.1322C>T (p.Thr441Met)
NM_003664.5(AP3B1):c.1436T>C (p.Ile479Thr)
NM_003664.5(AP3B1):c.1462G>A (p.Asp488Asn)
NM_003664.5(AP3B1):c.1544C>G (p.Pro515Arg)
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945
NM_003664.5(AP3B1):c.1754T>C (p.Val585Ala)
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn)
NM_003664.5(AP3B1):c.1838-2_1838-1insAAA
NM_003664.5(AP3B1):c.1840A>G (p.Arg614Gly)
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu)
NM_003664.5(AP3B1):c.1873A>G (p.Thr625Ala)
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) rs774196917
NM_003664.5(AP3B1):c.1892C>T (p.Thr631Ile)
NM_003664.5(AP3B1):c.1946G>A (p.Arg649Gln)
NM_003664.5(AP3B1):c.194G>A (p.Arg65Gln)
NM_003664.5(AP3B1):c.2027A>G (p.Tyr676Cys) rs759438615
NM_003664.5(AP3B1):c.2048A>T (p.Glu683Val)
NM_003664.5(AP3B1):c.2120G>A (p.Gly707Glu)
NM_003664.5(AP3B1):c.2332A>C (p.Ser778Arg)
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn)
NM_003664.5(AP3B1):c.236T>C (p.Leu79Pro)
NM_003664.5(AP3B1):c.2474A>G (p.Asn825Ser)
NM_003664.5(AP3B1):c.2482T>C (p.Ser828Pro)
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val) rs150765181
NM_003664.5(AP3B1):c.2587C>G (p.Pro863Ala)
NM_003664.5(AP3B1):c.2603C>T (p.Thr868Met)
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.5(AP3B1):c.2683T>A (p.Phe895Ile)
NM_003664.5(AP3B1):c.2758G>T (p.Gly920Trp)
NM_003664.5(AP3B1):c.2776A>G (p.Ile926Val)
NM_003664.5(AP3B1):c.2809+4A>G
NM_003664.5(AP3B1):c.2810-7T>A
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052
NM_003664.5(AP3B1):c.2897C>T (p.Thr966Ile)
NM_003664.5(AP3B1):c.2993-3C>T
NM_003664.5(AP3B1):c.3118G>C (p.Asp1040His)
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile)
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile)
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln)
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys)
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg)
NM_003664.5(AP3B1):c.537-7T>A
NM_003664.5(AP3B1):c.603+3A>G
NM_003664.5(AP3B1):c.647C>T (p.Pro216Leu)
NM_003664.5(AP3B1):c.65A>T (p.Gln22Leu)
NM_003664.5(AP3B1):c.679C>T (p.Arg227Cys)
NM_003664.5(AP3B1):c.764A>T (p.Gln255Leu)
NM_003664.5(AP3B1):c.785A>G (p.Glu262Gly)
NM_003664.5(AP3B1):c.786+6T>A
NM_003664.5(AP3B1):c.813G>T (p.Lys271Asn)
NM_003664.5(AP3B1):c.836A>T (p.Asp279Val)
NM_003664.5(AP3B1):c.877A>G (p.Met293Val)
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys)
NM_003664.5(AP3B1):c.916C>T (p.Pro306Ser)
NM_003664.5(AP3B1):c.946G>A (p.Val316Ile)

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