ClinVar Miner

List of variants in gene SPINK5 studied for Netherton syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 272
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HGVS dbSNP gnomAD frequency
NM_006846.4(SPINK5):c.2313+48G>A rs9325074 0.79044
NM_006846.4(SPINK5):c.2667-13A>T rs2052537 0.78792
NM_006846.4(SPINK5):c.82-31A>G rs1423001 0.74351
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478 0.56263
NM_006846.4(SPINK5):c.2241-26T>C rs3764926 0.56233
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134 0.54171
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397 0.54161
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908 0.54150
NM_006846.4(SPINK5):c.882+45_882+46insT rs76839946 0.51324
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205 0.50665
NM_006846.4(SPINK5):c.882+20A>G rs11958432 0.45982
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796 0.45563
NM_006846.4(SPINK5):c.1011-12C>T rs1422991 0.45033
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303 0.44173
NM_006846.4(SPINK5):c.1302+19G>A rs2303068 0.44163
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065 0.44136
NM_006846.4(SPINK5):c.1093-26C>T rs2303061 0.44132
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063 0.44127
NM_006846.4(SPINK5):c.*44T>C rs4349706 0.43753
NM_006846.4(SPINK5):c.*208C>G rs3088193 0.43751
NM_006846.4(SPINK5):c.*361_*363dup rs397704765 0.43679
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.24722
NM_006846.4(SPINK5):c.1693-32C>T rs2287769 0.14805
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070 0.10250
NM_006846.4(SPINK5):c.*330T>C rs72660265 0.09913
NM_006846.4(SPINK5):c.1344G>A (p.Arg448=) rs17107741 0.05403
NM_006846.4(SPINK5):c.-61A>C rs74572734 0.04900
NM_006846.4(SPINK5):c.209+15C>T rs3752677 0.04511
NM_006846.4(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445 0.04324
NM_006846.4(SPINK5):c.2965-10G>C rs58888156 0.04288
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=) rs17718737 0.03431
NM_006846.4(SPINK5):c.*59C>T rs73794699 0.03338
NM_006846.4(SPINK5):c.316G>A (p.Asp106Asn) rs17860502 0.03121
NM_006846.4(SPINK5):c.531G>A (p.Arg177=) rs35121983 0.02736
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_006846.4(SPINK5):c.119G>C (p.Gly40Ala) rs73269156 0.01335
NM_006846.4(SPINK5):c.2754A>G (p.Glu918=) rs114635730 0.01171
NM_006846.4(SPINK5):c.2864T>C (p.Val955Ala) rs115820034 0.01140
NM_006846.4(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632 0.01067
NM_006846.4(SPINK5):c.3186+8C>T rs115366845 0.01052
NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met) rs35877540 0.01015
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_006846.4(SPINK5):c.2241-6C>T rs190365795 0.00842
NM_006846.4(SPINK5):c.2895G>A (p.Lys965=) rs34966234 0.00755
NM_006846.4(SPINK5):c.*358A>G rs527953668 0.00689
NM_006846.4(SPINK5):c.-19G>A rs12522603 0.00660
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His) rs34393923 0.00653
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_006846.4(SPINK5):c.2667-4G>A rs180955184 0.00542
NM_006846.4(SPINK5):c.1128C>T (p.Asn376=) rs78128189 0.00360
NM_006846.4(SPINK5):c.3183G>A (p.Pro1061=) rs77756935 0.00345
NM_006846.4(SPINK5):c.2061G>A (p.Gln687=) rs36111383 0.00336
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00313
NM_006846.4(SPINK5):c.1605G>T (p.Val535=) rs201831966 0.00259
NM_006846.4(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775 0.00145
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753 0.00132
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183 0.00064
NM_006846.4(SPINK5):c.2124T>C (p.Ala708=) rs200884153 0.00058
NM_006846.4(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491 0.00041
NM_006846.4(SPINK5):c.603-3C>T rs185217593 0.00038
NM_006846.4(SPINK5):c.803G>A (p.Arg268His) rs375727921 0.00035
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665 0.00027
NM_006846.4(SPINK5):c.750C>T (p.Asp250=) rs199793551 0.00021
NM_006846.4(SPINK5):c.402T>C (p.Ala134=) rs371877583 0.00015
NM_006846.4(SPINK5):c.3003G>C (p.Arg1001Ser) rs778383258 0.00014
NM_006846.4(SPINK5):c.*229A>C rs759149324 0.00013
NM_006846.4(SPINK5):c.1165C>G (p.Gln389Glu) rs371745897 0.00011
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628 0.00011
NM_006846.4(SPINK5):c.*301C>T rs187725907 0.00009
NM_006846.4(SPINK5):c.1832C>T (p.Ala611Val) rs756226553 0.00009
NM_006846.4(SPINK5):c.1431-10T>G rs759079847 0.00008
NM_006846.4(SPINK5):c.893G>A (p.Ser298Asn) rs201879958 0.00008
NM_006846.4(SPINK5):c.1607+7G>T rs541432320 0.00007
NM_006846.4(SPINK5):c.2239T>C (p.Leu747=) rs759451448 0.00007
NM_006846.4(SPINK5):c.1093-4G>A rs754019195 0.00006
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg) rs765752936 0.00006
NM_006846.4(SPINK5):c.1499G>A (p.Arg500Gln) rs201428589 0.00006
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) rs201674667 0.00006
NM_006846.4(SPINK5):c.1820+11G>A rs796478719 0.00006
NM_006846.4(SPINK5):c.2167C>T (p.Arg723Trp) rs369782107 0.00006
NM_006846.4(SPINK5):c.2558G>A (p.Arg853Gln) rs376107938 0.00006
NM_006846.4(SPINK5):c.587T>C (p.Met196Thr) rs778955846 0.00006
NM_006846.4(SPINK5):c.677A>G (p.Lys226Arg) rs370010334 0.00006
NM_006846.4(SPINK5):c.*90G>A rs978677310 0.00005
NM_006846.4(SPINK5):c.1553G>A (p.Arg518His) rs576310290 0.00005
NM_006846.4(SPINK5):c.2666+5G>A rs185897034 0.00005
NM_006846.4(SPINK5):c.59C>T (p.Ala20Val) rs777592836 0.00005
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg) rs376109480 0.00004
NM_006846.4(SPINK5):c.1525A>G (p.Ile509Val) rs201926841 0.00004
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn) rs189170702 0.00004
NM_006846.4(SPINK5):c.1774G>C (p.Asp592His) rs760761246 0.00004
NM_006846.4(SPINK5):c.1887G>C (p.Lys629Asn) rs772652367 0.00004
NM_006846.4(SPINK5):c.2276G>A (p.Arg759His) rs781193914 0.00004
NM_006846.4(SPINK5):c.2678C>G (p.Ala893Gly) rs745918698 0.00004
NM_006846.4(SPINK5):c.3077T>G (p.Met1026Arg) rs373251772 0.00004
NM_006846.4(SPINK5):c.3166G>A (p.Ala1056Thr) rs199498786 0.00004
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084 0.00004
NM_006846.4(SPINK5):c.606A>C (p.Leu202Phe) rs750627345 0.00004
NM_006846.4(SPINK5):c.834A>C (p.Gln278His) rs201354872 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_006846.4(SPINK5):c.*78A>G rs774183421 0.00003
NM_006846.4(SPINK5):c.1034A>G (p.Lys345Arg) rs1461539646 0.00003
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881 0.00003
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter) rs777436361 0.00003
NM_006846.4(SPINK5):c.1681G>A (p.Glu561Lys) rs771426270 0.00003
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn) rs754319450 0.00003
NM_006846.4(SPINK5):c.1955C>T (p.Pro652Leu) rs191160111 0.00003
NM_006846.4(SPINK5):c.1961G>A (p.Arg654His) rs182767534 0.00003
NM_006846.4(SPINK5):c.2548C>T (p.Arg850Cys) rs774381522 0.00003
NM_006846.4(SPINK5):c.2849A>G (p.Tyr950Cys) rs188030639 0.00003
NM_006846.4(SPINK5):c.3121C>T (p.Arg1041Cys) rs374003659 0.00003
NM_006846.4(SPINK5):c.313A>G (p.Arg105Gly) rs371334869 0.00003
NM_006846.4(SPINK5):c.1135C>T (p.Leu379Phe) rs371578291 0.00002
NM_006846.4(SPINK5):c.1302+4A>T rs201269335 0.00002
NM_006846.4(SPINK5):c.1343G>A (p.Arg448Gln) rs375796789 0.00002
NM_006846.4(SPINK5):c.1586G>A (p.Cys529Tyr) rs764286291 0.00002
NM_006846.4(SPINK5):c.1660G>A (p.Glu554Lys) rs374599097 0.00002
NM_006846.4(SPINK5):c.173T>C (p.Met58Thr) rs773557840 0.00002
NM_006846.4(SPINK5):c.1772T>C (p.Leu591Pro) rs775502935 0.00002
NM_006846.4(SPINK5):c.182A>G (p.Asn61Ser) rs377031902 0.00002
NM_006846.4(SPINK5):c.2168G>A (p.Arg723Gln) rs755881402 0.00002
NM_006846.4(SPINK5):c.2386C>T (p.Arg796Trp) rs757605120 0.00002
NM_006846.4(SPINK5):c.2736A>G (p.Ala912=) rs773053071 0.00002
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225 0.00002
NM_006846.4(SPINK5):c.3101G>A (p.Arg1034His) rs775295911 0.00002
NM_006846.4(SPINK5):c.526A>G (p.Thr176Ala) rs200801701 0.00002
NM_006846.4(SPINK5):c.81+2T>A rs1131691490 0.00002
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe) rs759053532 0.00002
NM_006846.4(SPINK5):c.1194C>T (p.Asn398=) rs750608792 0.00001
NM_006846.4(SPINK5):c.1278A>C (p.Gln426His) rs747446927 0.00001
NM_006846.4(SPINK5):c.1282A>G (p.Lys428Glu) rs1428055248 0.00001
NM_006846.4(SPINK5):c.139G>T (p.Asp47Tyr) rs199620733 0.00001
NM_006846.4(SPINK5):c.1415T>C (p.Met472Thr) rs762735202 0.00001
NM_006846.4(SPINK5):c.1675A>G (p.Lys559Glu) rs777594346 0.00001
NM_006846.4(SPINK5):c.1702A>G (p.Ser568Gly) rs1326725036 0.00001
NM_006846.4(SPINK5):c.1820+53G>A rs754599628 0.00001
NM_006846.4(SPINK5):c.1825C>A (p.Gln609Lys) rs1366194827 0.00001
NM_006846.4(SPINK5):c.1844A>G (p.Glu615Gly) rs749375299 0.00001
NM_006846.4(SPINK5):c.2138A>T (p.Gln713Leu) rs762624618 0.00001
NM_006846.4(SPINK5):c.2360T>C (p.Ile787Thr) rs759856421 0.00001
NM_006846.4(SPINK5):c.2372A>C (p.Glu791Ala) rs756155612 0.00001
NM_006846.4(SPINK5):c.2387G>A (p.Arg796Gln) rs779242910 0.00001
NM_006846.4(SPINK5):c.2390G>A (p.Gly797Asp) rs1170375768 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_006846.4(SPINK5):c.2564T>C (p.Met855Thr) rs765056653 0.00001
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile) rs1431258015 0.00001
NM_006846.4(SPINK5):c.2667-13_2667-12insTT rs1561704956 0.00001
NM_006846.4(SPINK5):c.2672G>A (p.Arg891Gln) rs771456490 0.00001
NM_006846.4(SPINK5):c.2697A>C (p.Lys899Asn) rs775645249 0.00001
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr) rs1212563023 0.00001
NM_006846.4(SPINK5):c.2825G>A (p.Gly942Glu) rs368229591 0.00001
NM_006846.4(SPINK5):c.2885A>G (p.Glu962Gly) rs772801284 0.00001
NM_006846.4(SPINK5):c.2964+14T>G rs1017737800 0.00001
NM_006846.4(SPINK5):c.3042T>C (p.Cys1014=) rs1237574831 0.00001
NM_006846.4(SPINK5):c.3075C>T (p.Cys1025=) rs571812048 0.00001
NM_006846.4(SPINK5):c.3190G>A (p.Glu1064Lys) rs757745500 0.00001
NM_006846.4(SPINK5):c.464A>G (p.Asn155Ser) rs778100225 0.00001
NM_006846.4(SPINK5):c.560G>A (p.Gly187Glu) rs1753254257 0.00001
NM_006846.4(SPINK5):c.56A>C (p.Asp19Ala) rs1204188199 0.00001
NM_006846.4(SPINK5):c.666+10C>T rs773205014 0.00001
NM_006846.4(SPINK5):c.666+3A>G rs762435955 0.00001
NM_006846.4(SPINK5):c.730G>A (p.Asp244Asn) rs774534780 0.00001
NC_000005.10:g.(?_148086385)_(148116486_?)dup
NC_000005.10:g.(?_148136963)_(148137011_?)del
NC_000005.9:g.(?_147443360)_(147484583_?)del
NC_000005.9:g.(?_147443608)_(147451803_?)del
NC_000005.9:g.(?_147443608)_(147484583_?)del
NC_000005.9:g.(?_147443608)_(147516554_?)dup
NC_000005.9:g.(?_147470708)_(147470811_?)del
NC_000005.9:g.(?_147506526)_(147510972_?)del
NM_006846.4(SPINK5):c.-10C>T rs778902700
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter) rs924297783
NM_006846.4(SPINK5):c.1010+7A>G rs2113105960
NM_006846.4(SPINK5):c.1072G>A (p.Gly358Arg) rs1451813366
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1093-5G>A
NM_006846.4(SPINK5):c.1144A>T (p.Thr382Ser) rs770766012
NM_006846.4(SPINK5):c.1178G>A (p.Gly393Glu) rs2113116860
NM_006846.4(SPINK5):c.1216TTC[1] (p.Phe407del) rs2113117124
NM_006846.4(SPINK5):c.1280del (p.Ser427fs) rs1753640069
NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile) rs1431744993
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn) rs1266893770
NM_006846.4(SPINK5):c.1386T>A (p.Asp462Glu) rs772479299
NM_006846.4(SPINK5):c.1414A>T (p.Met472Leu)
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.1431-39del rs34473560
NM_006846.4(SPINK5):c.1461T>C (p.Ala487=) rs750918436
NM_006846.4(SPINK5):c.1498C>T (p.Arg500Trp) rs201611101
NM_006846.4(SPINK5):c.153del (p.Gln52fs) rs1752706120
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1605G>A (p.Val535=) rs201831966
NM_006846.4(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs) rs1561693720
NM_006846.4(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_006846.4(SPINK5):c.1724G>A (p.Arg575Lys)
NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter) rs201674667
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg) rs770045852
NM_006846.4(SPINK5):c.178A>G (p.Ile60Val) rs1438419399
NM_006846.4(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.4(SPINK5):c.1821-47T>G rs72660259
NM_006846.4(SPINK5):c.1892C>T (p.Thr631Ile)
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro) rs1754030459
NM_006846.4(SPINK5):c.1971T>C (p.Asp657=) rs1699884684
NM_006846.4(SPINK5):c.2042G>A (p.Arg681Lys)
NM_006846.4(SPINK5):c.2047G>C (p.Glu683Gln)
NM_006846.4(SPINK5):c.209+1G>A rs1752708600
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile) rs1398660016
NM_006846.4(SPINK5):c.2185C>T (p.Arg729Cys)
NM_006846.4(SPINK5):c.2190T>C (p.Asp730=) rs1754161817
NM_006846.4(SPINK5):c.2208CAA[1] (p.Asn738del) rs781321238
NM_006846.4(SPINK5):c.2213A>G (p.Asn738Ser)
NM_006846.4(SPINK5):c.2234C>T (p.Ala745Val)
NM_006846.4(SPINK5):c.2264del (p.Asn755fs)
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.4(SPINK5):c.2290G>T (p.Gly764Trp) rs778017808
NM_006846.4(SPINK5):c.2296G>A (p.Gly766Arg) rs1008169582
NM_006846.4(SPINK5):c.2313+31C>G rs9325073
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile) rs1452834406
NM_006846.4(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.4(SPINK5):c.2375G>A (p.Ser792Asn) rs2113193373
NM_006846.4(SPINK5):c.2390G>T (p.Gly797Val) rs1170375768
NM_006846.4(SPINK5):c.2447G>A (p.Arg816Lys) rs1754220479
NM_006846.4(SPINK5):c.2452G>A (p.Ala818Thr)
NM_006846.4(SPINK5):c.245A>G (p.His82Arg)
NM_006846.4(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
NM_006846.4(SPINK5):c.2478T>A (p.Asp826Glu)
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006846.4(SPINK5):c.2531A>G (p.Asp844Gly) rs1468330376
NM_006846.4(SPINK5):c.2612G>A (p.Arg871Gln)
NM_006846.4(SPINK5):c.2624G>A (p.Gly875Asp)
NM_006846.4(SPINK5):c.2632C>T (p.His878Tyr) rs748500823
NM_006846.4(SPINK5):c.2666+4C>T rs376671081
NM_006846.4(SPINK5):c.2728A>G (p.Asn910Asp)
NM_006846.4(SPINK5):c.2740-127_2740-126del rs797045108
NM_006846.4(SPINK5):c.274C>G (p.Pro92Ala) rs1212563023
NM_006846.4(SPINK5):c.2759G>A (p.Arg920Gln) rs371134163
NM_006846.4(SPINK5):c.2776A>C (p.Asn926His)
NM_006846.4(SPINK5):c.283-2A>T rs587777749
NM_006846.4(SPINK5):c.2891C>A (p.Ala964Glu) rs1754449328
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser) rs1483638724
NM_006846.4(SPINK5):c.3122G>T (p.Arg1041Leu)
NM_006846.4(SPINK5):c.3158G>A (p.Gly1053Glu)
NM_006846.4(SPINK5):c.328A>G (p.Ile110Val)
NM_006846.4(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.4(SPINK5):c.359G>A (p.Gly120Asp) rs1753156960
NM_006846.4(SPINK5):c.443A>C (p.Glu148Ala)
NM_006846.4(SPINK5):c.460A>C (p.Ser154Arg) rs756283031
NM_006846.4(SPINK5):c.460A>G (p.Ser154Gly)
NM_006846.4(SPINK5):c.46C>T (p.Leu16Phe) rs370369039
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp) rs192473184
NM_006846.4(SPINK5):c.4A>C (p.Lys2Gln) rs2127180920
NM_006846.4(SPINK5):c.628C>A (p.Arg210=) rs535512727
NM_006846.4(SPINK5):c.652C>G (p.Arg218Gly) rs199757347
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.4(SPINK5):c.666G>T (p.Lys222Asn) rs769098540
NM_006846.4(SPINK5):c.715dup (p.Cys239fs)
NM_006846.4(SPINK5):c.739C>T (p.Arg247Cys) rs371290967
NM_006846.4(SPINK5):c.776C>A (p.Ala259Asp) rs373819431
NM_006846.4(SPINK5):c.795-11A>G rs1561685366
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn) rs755830397
NM_006846.4(SPINK5):c.882+19_882+20delinsGG
NM_006846.4(SPINK5):c.882+1_882+3del rs750225476
NM_006846.4(SPINK5):c.899A>G (p.Tyr300Cys) rs2113105257
NM_006846.4(SPINK5):c.917A>G (p.Asn306Ser) rs947124939
NM_006846.4(SPINK5):c.964G>A (p.Asp322Asn) rs1561686908
NM_006846.4(SPINK5):c.995del (p.Met332fs) rs1561686960

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