ClinVar Miner

List of variants in gene SPINK5 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 169
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006846.4(SPINK5):c.*358A>G rs527953668 0.00689
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00313
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
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.750C>T (p.Asp250=) rs199793551 0.00021
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.1339G>A (p.Gly447Arg) rs765752936 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.1499G>A (p.Arg500Gln) rs201428589 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.*78A>G rs774183421 0.00003
NM_006846.4(SPINK5):c.1034A>G (p.Lys345Arg) rs1461539646 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.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.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.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.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+3A>G rs762435955 0.00001
NM_006846.4(SPINK5):c.730G>A (p.Asp244Asn) rs774534780 0.00001
NC_000005.10:g.(?_148086385)_(148116486_?)dup
NM_006846.4(SPINK5):c.-10C>T rs778902700
NM_006846.4(SPINK5):c.1010+7A>G rs2113105960
NM_006846.4(SPINK5):c.1072G>A (p.Gly358Arg) rs1451813366
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.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.1498C>T (p.Arg500Trp) rs201611101
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.1739C>G (p.Pro580Arg) rs770045852
NM_006846.4(SPINK5):c.178A>G (p.Ile60Val) rs1438419399
NM_006846.4(SPINK5):c.1892C>T (p.Thr631Ile)
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro) rs1754030459
NM_006846.4(SPINK5):c.2042G>A (p.Arg681Lys)
NM_006846.4(SPINK5):c.2047G>C (p.Glu683Gln)
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile) rs1398660016
NM_006846.4(SPINK5):c.2185C>T (p.Arg729Cys)
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.2290G>T (p.Gly764Trp) rs778017808
NM_006846.4(SPINK5):c.2296G>A (p.Gly766Arg) rs1008169582
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile) rs1452834406
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.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.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.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.666G>T (p.Lys222Asn) rs769098540
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.860C>A (p.Thr287Asn) rs755830397
NM_006846.4(SPINK5):c.882+19_882+20delinsGG
NM_006846.4(SPINK5):c.899A>G (p.Tyr300Cys) rs2113105257
NM_006846.4(SPINK5):c.917A>G (p.Asn306Ser) rs947124939

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.