ClinVar Miner

List of variants in gene AP5Z1 reported as likely benign for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.1311+239A>G rs146284263 0.02342
NM_014855.3(AP5Z1):c.1708-14C>T rs118139547 0.02183
NM_014855.3(AP5Z1):c.1708-291C>T rs12155329 0.02078
NM_014855.3(AP5Z1):c.179+113T>G rs145399025 0.01556
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840 0.01556
NM_014855.3(AP5Z1):c.1311+129T>C rs139945151 0.01553
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541 0.01551
NM_014855.3(AP5Z1):c.1595+29C>A rs150510697 0.01551
NM_014855.3(AP5Z1):c.1707+238A>G rs79928377 0.01423
NM_014855.3(AP5Z1):c.791-222G>A rs115151561 0.01414
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809 0.01379
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839 0.01367
NM_014855.3(AP5Z1):c.180-28C>T rs114430021 0.01304
NM_014855.3(AP5Z1):c.1455-148G>A rs56276625 0.01290
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) rs115454162 0.01129
NM_014855.3(AP5Z1):c.1805+212C>T rs73671927 0.01078
NM_014855.3(AP5Z1):c.1707+314C>T rs75149652 0.01048
NM_014855.3(AP5Z1):c.1707+232C>T rs147945272 0.01021
NM_014855.3(AP5Z1):c.42-146C>T rs61215980 0.00995
NM_014855.3(AP5Z1):c.42-144A>T rs55987280 0.00992
NM_014855.3(AP5Z1):c.1708-5C>T rs184752711 0.00977
NM_014855.3(AP5Z1):c.1312-20C>T rs114137831 0.00915
NM_014855.3(AP5Z1):c.1455-36G>A rs117314846 0.00826
NM_014855.3(AP5Z1):c.511+66A>G rs181496543 0.00811
NM_014855.3(AP5Z1):c.1596-59C>T rs147804956 0.00798
NM_014855.3(AP5Z1):c.1132+14G>T rs139019097 0.00792
NM_014855.3(AP5Z1):c.1708-102C>T rs117303296 0.00738
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr) rs183580097 0.00602
NM_014855.3(AP5Z1):c.791-5C>T rs73671921 0.00595
NM_014855.3(AP5Z1):c.1805+24C>T rs373005696 0.00564
NM_014855.3(AP5Z1):c.1806-167G>A rs79820008 0.00547
NM_014855.3(AP5Z1):c.*150G>A rs186823399 0.00478
NM_014855.3(AP5Z1):c.369T>C (p.Gly123=) rs182431279 0.00474
NM_014855.3(AP5Z1):c.1806-80G>C rs572285835 0.00403
NM_014855.3(AP5Z1):c.*532G>A rs527985598 0.00387
NM_014855.3(AP5Z1):c.428G>A (p.Arg143Gln) rs186993311 0.00386
NM_014855.3(AP5Z1):c.1708-247A>C rs568751379 0.00373
NM_014855.3(AP5Z1):c.1805+115C>A rs562175829 0.00357
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417 0.00341
NM_014855.3(AP5Z1):c.1454+57T>C rs141506233 0.00324
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=) rs146682319 0.00321
NM_014855.3(AP5Z1):c.1133-19G>C rs148117172 0.00320
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=) rs146915189 0.00319
NM_014855.3(AP5Z1):c.41+232T>G rs73671920 0.00313
NC_000007.14:g.4775436C>A rs531357045 0.00293
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609 0.00278
NM_014855.3(AP5Z1):c.969+34C>T rs73671923 0.00214
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
NM_014855.3(AP5Z1):c.1062C>T (p.His354=) rs192441133 0.00114
NM_014855.3(AP5Z1):c.1155G>A (p.Ser385=) rs370926189 0.00112
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=) rs182411153 0.00105
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=) rs371534878 0.00092
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622 0.00079
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=) rs372922535 0.00073
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=) rs572271008 0.00060
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) rs377507553 0.00046
NM_014855.3(AP5Z1):c.1043C>T (p.Ser348Phe) rs547137141 0.00044
NM_014855.3(AP5Z1):c.1595+4C>T rs141607676 0.00039
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=) rs368571200 0.00030
NM_014855.3(AP5Z1):c.258C>T (p.Cys86=) rs369050534 0.00019
NM_014855.3(AP5Z1):c.636C>T (p.Thr212=) rs777143531 0.00010
NM_014855.3(AP5Z1):c.1110C>T (p.Leu370=) rs756954352 0.00006
NM_014855.3(AP5Z1):c.1527C>T (p.Phe509=) rs745794388 0.00006
NM_014855.3(AP5Z1):c.348C>T (p.Ala116=) rs753730544 0.00006
NM_014855.3(AP5Z1):c.150C>T (p.Leu50=) rs770836286 0.00005
NM_014855.3(AP5Z1):c.543C>T (p.Val181=) rs1050248739 0.00004
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=) rs756140557 0.00004
NM_014855.3(AP5Z1):c.894C>T (p.Phe298=) rs777233282 0.00004
NM_014855.3(AP5Z1):c.678C>G (p.Leu226=) rs771296028 0.00002
NM_014855.3(AP5Z1):c.1419G>A (p.Leu473=) rs1256999635 0.00001
NM_014855.3(AP5Z1):c.1551T>C (p.Leu517=) rs779395048 0.00001
NM_014855.3(AP5Z1):c.1680G>A (p.Leu560=) rs368045268 0.00001
NM_014855.3(AP5Z1):c.2022G>A (p.Leu674=) rs747762254 0.00001
NM_014855.3(AP5Z1):c.327C>T (p.Ser109=) rs773974454 0.00001
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val) rs372539355 0.00001
NM_014855.3(AP5Z1):c.54C>T (p.Asp18=) rs752985436 0.00001
NM_014855.3(AP5Z1):c.1018C>T (p.Pro340Ser) rs561646689
NM_014855.3(AP5Z1):c.1132+93_1132+96del rs74274130
NM_014855.3(AP5Z1):c.1132+96del rs74274130
NM_014855.3(AP5Z1):c.1133-239C>T rs59177795
NM_014855.3(AP5Z1):c.1239C>T (p.Phe413=)
NM_014855.3(AP5Z1):c.1266C>T (p.Ser422=)
NM_014855.3(AP5Z1):c.1311+244G>C rs139074793
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=) rs113014863
NM_014855.3(AP5Z1):c.1454+91C>T rs138182480
NM_014855.3(AP5Z1):c.1455-62C>T rs141779655
NM_014855.3(AP5Z1):c.1455-76G>A rs138658543
NM_014855.3(AP5Z1):c.1707+249_1707+291del rs765706327
NM_014855.3(AP5Z1):c.1805+73C>G rs117029435
NM_014855.3(AP5Z1):c.2154-52C>T rs76958033
NM_014855.3(AP5Z1):c.2154-83C>T rs114452544
NM_014855.3(AP5Z1):c.2271G>A (p.Leu757=) rs762638792
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala) rs188569082
NM_014855.3(AP5Z1):c.2328C>A (p.Ser776Arg) rs192794637
NM_014855.3(AP5Z1):c.367-7T>C rs1583230057
NM_014855.3(AP5Z1):c.42-77C>T rs143180624
NM_014855.3(AP5Z1):c.420G>A (p.Leu140=)
NM_014855.3(AP5Z1):c.511+104G>A rs558941021
NM_014855.3(AP5Z1):c.512-111G>T rs78580507
NM_014855.3(AP5Z1):c.528C>T (p.Leu176=) rs1583230652
NM_014855.3(AP5Z1):c.790+7G>C rs759449685
NM_014855.3(AP5Z1):c.791-124C>T rs138305170
NM_014855.3(AP5Z1):c.957C>T (p.Asp319=)

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