ClinVar Miner

List of variants in gene SPINK5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 269
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HGVS dbSNP
NC_000005.10:g.148099496_148099497del
NC_000005.9:g.(?_147516526)_(147516574_?)del
NM_001127698.2(SPINK5):c.1188_1189inv (p.Gly397Ser)
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.2088_2090TGG[2] (p.Gly701del) rs111662216
NM_001127698.2(SPINK5):c.2208_2210CAA[1] (p.Asn738del) rs781321238
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001127698.2(SPINK5):c.2494_2511ACAGGAGAAAGGAGCAAT[1] (p.832_837TGERSN[1]) rs554634510
NM_001127698.2(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591
NM_001127698.2(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_006846.3(SPINK5):c.*208C>G rs3088193
NM_006846.3(SPINK5):c.*229A>C rs759149324
NM_006846.3(SPINK5):c.*330T>C rs72660265
NM_006846.3(SPINK5):c.*358A>G rs527953668
NM_006846.3(SPINK5):c.*361_*363dup rs397704765
NM_006846.3(SPINK5):c.*44T>C rs4349706
NM_006846.3(SPINK5):c.*59C>T rs73794699
NM_006846.3(SPINK5):c.*78A>G rs774183421
NM_006846.3(SPINK5):c.-10C>T rs778902700
NM_006846.3(SPINK5):c.-61A>C rs74572734
NM_006846.3(SPINK5):c.1004C>T (p.Ala335Val) rs34482796
NM_006846.3(SPINK5):c.1011-12C>T rs1422991
NM_006846.3(SPINK5):c.1011-223C>G
NM_006846.3(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881
NM_006846.3(SPINK5):c.1087T>C (p.Tyr363His) rs1554104431
NM_006846.3(SPINK5):c.1089T>G (p.Tyr363Ter)
NM_006846.3(SPINK5):c.1092+159A>G
NM_006846.3(SPINK5):c.1092+172A>G
NM_006846.3(SPINK5):c.1092+238T>A
NM_006846.3(SPINK5):c.1093-10A>G rs2303062
NM_006846.3(SPINK5):c.1093-209G>C
NM_006846.3(SPINK5):c.1093-226A>G
NM_006846.3(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063
NM_006846.3(SPINK5):c.1128C>T (p.Asn376=) rs78128189
NM_006846.3(SPINK5):c.1144A>T (p.Thr382Ser) rs770766012
NM_006846.3(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064
NM_006846.3(SPINK5):c.1188T>C (p.His396=) rs2303065
NM_006846.3(SPINK5):c.1194C>T (p.Asn398=) rs750608792
NM_006846.3(SPINK5):c.119G>C (p.Gly40Ala) rs73269156
NM_006846.3(SPINK5):c.1221-241dup
NM_006846.3(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067
NM_006846.3(SPINK5):c.1282A>G (p.Lys428Glu) rs1428055248
NM_006846.3(SPINK5):c.1302+16C>T rs112708641
NM_006846.3(SPINK5):c.1302+19G>A rs2303068
NM_006846.3(SPINK5):c.1302+4A>T rs201269335
NM_006846.3(SPINK5):c.1303-100G>A
NM_006846.3(SPINK5):c.1322G>A (p.Arg441His) rs34393923
NM_006846.3(SPINK5):c.1344G>A (p.Arg448=) rs17107741
NM_006846.3(SPINK5):c.1355C>T (p.Thr452Ile) rs1321102136
NM_006846.3(SPINK5):c.1366G>T (p.Asp456Tyr) rs757370601
NM_006846.3(SPINK5):c.136C>T (p.Gln46Ter) rs886039547
NM_006846.3(SPINK5):c.1373T>C (p.Ile458Thr)
NM_006846.3(SPINK5):c.1389A>G (p.Gly463=) rs6896303
NM_006846.3(SPINK5):c.139G>T (p.Asp47Tyr)
NM_006846.3(SPINK5):c.1431-10T>G rs759079847
NM_006846.3(SPINK5):c.1431-13C>T rs375240260
NM_006846.3(SPINK5):c.1431-75C>G rs10477362
NM_006846.3(SPINK5):c.1437del (p.Glu480fs) rs1554104853
NM_006846.3(SPINK5):c.1480-10C>A rs375718943
NM_006846.3(SPINK5):c.1480-241C>T
NM_006846.3(SPINK5):c.1499G>A (p.Arg500Gln)
NM_006846.3(SPINK5):c.1526T>C (p.Ile509Thr)
NM_006846.3(SPINK5):c.1530C>A (p.Cys510Ter) rs1554105045
NM_006846.3(SPINK5):c.1539G>A (p.Glu513=) rs184512279
NM_006846.3(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632
NM_006846.3(SPINK5):c.1553G>A (p.Arg518His) rs576310290
NM_006846.3(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.3(SPINK5):c.1592T>G (p.Met531Arg) rs985590287
NM_006846.3(SPINK5):c.1605G>A (p.Val535=) rs201831966
NM_006846.3(SPINK5):c.1605G>T (p.Val535=) rs201831966
NM_006846.3(SPINK5):c.1607+274G>A
NM_006846.3(SPINK5):c.1607+7G>T rs541432320
NM_006846.3(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs) rs1561693720
NM_006846.3(SPINK5):c.1615_1619del (p.Glu539fs) rs1554105205
NM_006846.3(SPINK5):c.1659C>T (p.Val553=) rs2303071
NM_006846.3(SPINK5):c.1660G>A (p.Glu554Lys)
NM_006846.3(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_006846.3(SPINK5):c.1764T>G (p.Ile588Met) rs35877540
NM_006846.3(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.3(SPINK5):c.1820+11G>A rs796478719
NM_006846.3(SPINK5):c.1825C>A (p.Gln609Lys) rs1366194827
NM_006846.3(SPINK5):c.1851T>C (p.Ala617=) rs17718737
NM_006846.3(SPINK5):c.1875A>T (p.Arg625Ser) rs373811778
NM_006846.3(SPINK5):c.1887G>C (p.Lys629Asn)
NM_006846.3(SPINK5):c.1888-134C>T
NM_006846.3(SPINK5):c.1888-145T>G
NM_006846.3(SPINK5):c.1888-1G>A
NM_006846.3(SPINK5):c.1888-54G>A
NM_006846.3(SPINK5):c.1907G>A (p.Arg636Gln) rs758747211
NM_006846.3(SPINK5):c.1915_1916del (p.Leu639fs)
NM_006846.3(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491
NM_006846.3(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576
NM_006846.3(SPINK5):c.2015+8C>A rs1457469450
NM_006846.3(SPINK5):c.2016-295C>G
NM_006846.3(SPINK5):c.2061G>A (p.Gln687=) rs36111383
NM_006846.3(SPINK5):c.209+15C>T rs3752677
NM_006846.3(SPINK5):c.209+234A>G
NM_006846.3(SPINK5):c.210-260C>T
NM_006846.3(SPINK5):c.210-295A>G
NM_006846.3(SPINK5):c.2112+247T>C
NM_006846.3(SPINK5):c.2112+278G>A
NM_006846.3(SPINK5):c.2113-227T>G
NM_006846.3(SPINK5):c.2113-270C>T
NM_006846.3(SPINK5):c.2124T>C (p.Ala708=) rs200884153
NM_006846.3(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134
NM_006846.3(SPINK5):c.2168G>A (p.Arg723Gln)
NM_006846.3(SPINK5):c.2215C>T (p.Gln739Ter) rs766028970
NM_006846.3(SPINK5):c.2239T>C (p.Leu747=) rs759451448
NM_006846.3(SPINK5):c.2240+165A>G
NM_006846.3(SPINK5):c.2240+1G>A rs775341740
NM_006846.3(SPINK5):c.2241-160G>C
NM_006846.3(SPINK5):c.2241-4C>G rs1554106267
NM_006846.3(SPINK5):c.2241-6C>T rs190365795
NM_006846.3(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.3(SPINK5):c.2276G>A (p.Arg759His) rs781193914
NM_006846.3(SPINK5):c.2290G>T (p.Gly764Trp) rs778017808
NM_006846.3(SPINK5):c.2296G>A (p.Gly766Arg)
NM_006846.3(SPINK5):c.2313+228C>T
NM_006846.3(SPINK5):c.2314-322G>A
NM_006846.3(SPINK5):c.2326del (p.Glu776fs) rs1131691815
NM_006846.3(SPINK5):c.2358C>T (p.Leu786=) rs17704908
NM_006846.3(SPINK5):c.2360T>C (p.Ile787Thr) rs759856421
NM_006846.3(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.3(SPINK5):c.2382T>C (p.Pro794=) rs188840406
NM_006846.3(SPINK5):c.2412C>T (p.Gly804=) rs33920397
NM_006846.3(SPINK5):c.2419T>G (p.Cys807Gly)
NM_006846.3(SPINK5):c.2441+1G>A rs1561701382
NM_006846.3(SPINK5):c.2441+7A>G rs794727403
NM_006846.3(SPINK5):c.2442-16A>G rs148657069
NM_006846.3(SPINK5):c.2467A>T (p.Lys823Ter) rs886041508
NM_006846.3(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.3(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.3(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070
NM_006846.3(SPINK5):c.2531A>G (p.Asp844Gly)
NM_006846.3(SPINK5):c.2558G>A (p.Arg853Gln)
NM_006846.3(SPINK5):c.2622T>A (p.Tyr874Ter) rs1057520643
NM_006846.3(SPINK5):c.2632C>T (p.His878Tyr)
NM_006846.3(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445
NM_006846.3(SPINK5):c.2666+233G>A
NM_006846.3(SPINK5):c.2666+297A>C
NM_006846.3(SPINK5):c.2666+4C>T rs376671081
NM_006846.3(SPINK5):c.2667-13A>T rs2052537
NM_006846.3(SPINK5):c.2667-14dup
NM_006846.3(SPINK5):c.2667-16T>G rs1057521635
NM_006846.3(SPINK5):c.2667-1G>A rs1057524476
NM_006846.3(SPINK5):c.2667-4G>A rs180955184
NM_006846.3(SPINK5):c.2736A>G (p.Ala912=) rs773053071
NM_006846.3(SPINK5):c.2739+10del rs769519367
NM_006846.3(SPINK5):c.2740-127_2740-126del rs797045108
NM_006846.3(SPINK5):c.2740-170G>A rs3764930
NM_006846.3(SPINK5):c.2740-1G>C rs1057518067
NM_006846.3(SPINK5):c.2740-381A>G
NM_006846.3(SPINK5):c.2754A>G (p.Glu918=) rs114635730
NM_006846.3(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166
NM_006846.3(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775
NM_006846.3(SPINK5):c.282+198_282+199del
NM_006846.3(SPINK5):c.283-2A>T rs587777749
NM_006846.3(SPINK5):c.283-337C>T
NM_006846.3(SPINK5):c.283-339T>C
NM_006846.3(SPINK5):c.2830T>G (p.Phe944Val) rs1169533706
NM_006846.3(SPINK5):c.2863G>C (p.Val955Leu)
NM_006846.3(SPINK5):c.2864T>C (p.Val955Ala) rs115820034
NM_006846.3(SPINK5):c.2867+273T>A
NM_006846.3(SPINK5):c.2868-169A>G
NM_006846.3(SPINK5):c.2895G>A (p.Lys965=) rs34966234
NM_006846.3(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691
NM_006846.3(SPINK5):c.2915A>G (p.His972Arg) rs17705005
NM_006846.3(SPINK5):c.2939A>G (p.Asp980Gly)
NM_006846.3(SPINK5):c.2963T>C (p.Leu988Pro)
NM_006846.3(SPINK5):c.2964+225A>G
NM_006846.3(SPINK5):c.2964+249G>A
NM_006846.3(SPINK5):c.2964G>A (p.Leu988=) rs760791426
NM_006846.3(SPINK5):c.2965-10G>C rs58888156
NM_006846.3(SPINK5):c.2965-330G>A
NM_006846.3(SPINK5):c.3009T>C (p.Gly1003=) rs2400478
NM_006846.3(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225
NM_006846.3(SPINK5):c.3075C>T (p.Cys1025=)
NM_006846.3(SPINK5):c.3077T>G (p.Met1026Arg)
NM_006846.3(SPINK5):c.3091A>G (p.Asn1031Asp)
NM_006846.3(SPINK5):c.3101G>A (p.Arg1034His) rs775295911
NM_006846.3(SPINK5):c.3113C>A (p.Thr1038Lys)
NM_006846.3(SPINK5):c.3121C>T (p.Arg1041Cys)
NM_006846.3(SPINK5):c.313A>G (p.Arg105Gly)
NM_006846.3(SPINK5):c.316G>A (p.Asp106Asn) rs17860502
NM_006846.3(SPINK5):c.3183G>A (p.Pro1061=) rs77756935
NM_006846.3(SPINK5):c.3186+200T>C
NM_006846.3(SPINK5):c.3186+8C>T rs115366845
NM_006846.3(SPINK5):c.3189C>T (p.Asp1063=) rs200751535
NM_006846.3(SPINK5):c.341A>G (p.Tyr114Cys) rs764853169
NM_006846.3(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.3(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer)
NM_006846.3(SPINK5):c.389_392dup (p.Leu132fs) rs756874525
NM_006846.3(SPINK5):c.410+124A>G
NM_006846.3(SPINK5):c.410+37G>T
NM_006846.3(SPINK5):c.410+6T>C rs1554103297
NM_006846.3(SPINK5):c.411-5T>A rs775468293
NM_006846.3(SPINK5):c.418G>A (p.Gly140Arg)
NM_006846.3(SPINK5):c.456G>A (p.Lys152=) rs777350307
NM_006846.3(SPINK5):c.524G>A (p.Cys175Tyr) rs1279742014
NM_006846.3(SPINK5):c.531G>A (p.Arg177=) rs35121983
NM_006846.3(SPINK5):c.551G>A (p.Gly184Asp)
NM_006846.3(SPINK5):c.598C>T (p.Leu200=) rs114784178
NM_006846.3(SPINK5):c.59C>T (p.Ala20Val)
NM_006846.3(SPINK5):c.603-3C>T rs185217593
NM_006846.3(SPINK5):c.606A>C (p.Leu202Phe) rs750627345
NM_006846.3(SPINK5):c.649C>T (p.Arg217Ter) rs367958902
NM_006846.3(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.3(SPINK5):c.667-250G>A
NM_006846.3(SPINK5):c.677A>G (p.Lys226Arg) rs370010334
NM_006846.3(SPINK5):c.690del (p.Lys230fs) rs1561684604
NM_006846.3(SPINK5):c.730G>A (p.Asp244Asn)
NM_006846.3(SPINK5):c.739C>T (p.Arg247Cys) rs371290967
NM_006846.3(SPINK5):c.750C>T (p.Asp250=) rs199793551
NM_006846.3(SPINK5):c.753C>T (p.Gly251=)
NM_006846.3(SPINK5):c.794+313A>T
NM_006846.3(SPINK5):c.795-11A>G rs1561685366
NM_006846.3(SPINK5):c.795-228C>A
NM_006846.3(SPINK5):c.799_800delinsAG (p.Gln267Arg)
NM_006846.3(SPINK5):c.800A>G (p.Gln267Arg) rs6892205
NM_006846.3(SPINK5):c.803G>A (p.Arg268His) rs375727921
NM_006846.3(SPINK5):c.81+165C>T
NM_006846.3(SPINK5):c.81+19G>A rs1057520976
NM_006846.3(SPINK5):c.81+206A>G
NM_006846.3(SPINK5):c.81+2T>A rs1131691490
NM_006846.3(SPINK5):c.81+88C>G
NM_006846.3(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006846.3(SPINK5):c.834A>C (p.Gln278His) rs201354872
NM_006846.3(SPINK5):c.882+122G>A
NM_006846.3(SPINK5):c.882+141A>G
NM_006846.3(SPINK5):c.882+159G>A
NM_006846.3(SPINK5):c.882+20A>G rs11958432
NM_006846.3(SPINK5):c.882+238G>A
NM_006846.3(SPINK5):c.882+2T>C rs1057518161
NM_006846.3(SPINK5):c.883-170A>G
NM_006846.3(SPINK5):c.964G>A (p.Asp322Asn) rs1561686908
NM_006846.3(SPINK5):c.995del (p.Met332fs) rs1561686960
NM_006846.4(SPINK5):c.1071T>G (p.Ser357=)
NM_006846.4(SPINK5):c.1093-4G>A
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln)
NM_006846.4(SPINK5):c.1218C>T (p.Phe406=)
NM_006846.4(SPINK5):c.1272A>G (p.Lys424=)
NM_006846.4(SPINK5):c.1401C>T (p.Gly467=)
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys)
NM_006846.4(SPINK5):c.1461T>C (p.Ala487=)
NM_006846.4(SPINK5):c.162T>G (p.Leu54=)
NM_006846.4(SPINK5):c.1671A>G (p.Lys557=)
NM_006846.4(SPINK5):c.1677G>A (p.Lys559=)
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=)
NM_006846.4(SPINK5):c.1821-4A>G
NM_006846.4(SPINK5):c.1887+10C>G
NM_006846.4(SPINK5):c.1896C>T (p.Cys632=)
NM_006846.4(SPINK5):c.195G>T (p.Thr65=)
NM_006846.4(SPINK5):c.2127G>A (p.Glu709=)
NM_006846.4(SPINK5):c.2205G>A (p.Ser735=)
NM_006846.4(SPINK5):c.2349T>C (p.Asn783=)
NM_006846.4(SPINK5):c.2441+8T>C
NM_006846.4(SPINK5):c.2579del (p.Lys860fs)
NM_006846.4(SPINK5):c.2667-9A>T
NM_006846.4(SPINK5):c.3042T>C (p.Cys1014=)
NM_006846.4(SPINK5):c.3186+9A>T
NM_006846.4(SPINK5):c.374del (p.Thr125fs)
NM_006846.4(SPINK5):c.402T>C (p.Ala134=)
NM_006846.4(SPINK5):c.489T>A (p.Ala163=)
NM_006846.4(SPINK5):c.602+10A>C
NM_006846.4(SPINK5):c.666+10C>T
NM_006846.4(SPINK5):c.738C>T (p.Val246=)
NM_006846.4(SPINK5):c.850del (p.Glu284fs)
Single allele

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