ClinVar Miner

List of variants in gene SPINK5 reported as uncertain significance for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(?_148086385)_(148116486_?)dup
NC_000005.10:g.(?_148136963)_(148137011_?)del
NM_001127698.2(SPINK5):c.1188_1189inv (p.Gly397Ser)
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_006846.3(SPINK5):c.*229A>C rs759149324
NM_006846.3(SPINK5):c.*358A>G rs527953668
NM_006846.3(SPINK5):c.*78A>G rs774183421
NM_006846.3(SPINK5):c.-10C>T rs778902700
NM_006846.3(SPINK5):c.1144A>T (p.Thr382Ser) rs770766012
NM_006846.3(SPINK5):c.1194C>T (p.Asn398=) rs750608792
NM_006846.3(SPINK5):c.1282A>G (p.Lys428Glu) rs1428055248
NM_006846.3(SPINK5):c.1355C>T (p.Thr452Ile) rs1321102136
NM_006846.3(SPINK5):c.1373T>C (p.Ile458Thr) rs1581082573
NM_006846.3(SPINK5):c.139G>T (p.Asp47Tyr) rs199620733
NM_006846.3(SPINK5):c.1431-10T>G rs759079847
NM_006846.3(SPINK5):c.1499G>A (p.Arg500Gln) rs201428589
NM_006846.3(SPINK5):c.1526T>C (p.Ile509Thr) rs1268068282
NM_006846.3(SPINK5):c.1553G>A (p.Arg518His) rs576310290
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.1607+7G>T rs541432320
NM_006846.3(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs) rs1561693720
NM_006846.3(SPINK5):c.1660G>A (p.Glu554Lys) rs374599097
NM_006846.3(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_006846.3(SPINK5):c.1820+11G>A rs796478719
NM_006846.3(SPINK5):c.1825C>A (p.Gln609Lys) rs1366194827
NM_006846.3(SPINK5):c.1875A>T (p.Arg625Ser) rs373811778
NM_006846.3(SPINK5):c.1887G>C (p.Lys629Asn) rs772652367
NM_006846.3(SPINK5):c.1907G>A (p.Arg636Gln) rs758747211
NM_006846.3(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491
NM_006846.3(SPINK5):c.2124T>C (p.Ala708=) rs200884153
NM_006846.3(SPINK5):c.2168G>A (p.Arg723Gln) rs755881402
NM_006846.3(SPINK5):c.2239T>C (p.Leu747=) rs759451448
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) rs1008169582
NM_006846.3(SPINK5):c.2360T>C (p.Ile787Thr) rs759856421
NM_006846.3(SPINK5):c.2419T>G (p.Cys807Gly) rs201815688
NM_006846.3(SPINK5):c.2531A>G (p.Asp844Gly) rs1468330376
NM_006846.3(SPINK5):c.2558G>A (p.Arg853Gln) rs376107938
NM_006846.3(SPINK5):c.2632C>T (p.His878Tyr) rs748500823
NM_006846.3(SPINK5):c.2666+4C>T rs376671081
NM_006846.3(SPINK5):c.2736A>G (p.Ala912=) rs773053071
NM_006846.3(SPINK5):c.2830T>G (p.Phe944Val) rs1169533706
NM_006846.3(SPINK5):c.2863G>C (p.Val955Leu) rs773604007
NM_006846.3(SPINK5):c.2939A>G (p.Asp980Gly) rs778193022
NM_006846.3(SPINK5):c.2963T>C (p.Leu988Pro) rs553107767
NM_006846.3(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225
NM_006846.3(SPINK5):c.3075C>T (p.Cys1025=) rs571812048
NM_006846.3(SPINK5):c.3077T>G (p.Met1026Arg) rs373251772
NM_006846.3(SPINK5):c.3091A>G (p.Asn1031Asp) rs1581113847
NM_006846.3(SPINK5):c.3101G>A (p.Arg1034His) rs775295911
NM_006846.3(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628
NM_006846.3(SPINK5):c.3121C>T (p.Arg1041Cys) rs374003659
NM_006846.3(SPINK5):c.313A>G (p.Arg105Gly) rs371334869
NM_006846.3(SPINK5):c.341A>G (p.Tyr114Cys) rs764853169
NM_006846.3(SPINK5):c.418G>A (p.Gly140Arg) rs573158320
NM_006846.3(SPINK5):c.524G>A (p.Cys175Tyr) rs1279742014
NM_006846.3(SPINK5):c.551G>A (p.Gly184Asp) rs201812473
NM_006846.3(SPINK5):c.59C>T (p.Ala20Val) rs777592836
NM_006846.3(SPINK5):c.603-3C>T rs185217593
NM_006846.3(SPINK5):c.606A>C (p.Leu202Phe) rs750627345
NM_006846.3(SPINK5):c.677A>G (p.Lys226Arg) rs370010334
NM_006846.3(SPINK5):c.730G>A (p.Asp244Asn) rs774534780
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=) rs376643233
NM_006846.3(SPINK5):c.795-11A>G rs1561685366
NM_006846.3(SPINK5):c.803G>A (p.Arg268His) rs375727921
NM_006846.3(SPINK5):c.834A>C (p.Gln278His) rs201354872
NM_006846.4(SPINK5):c.*301C>T
NM_006846.4(SPINK5):c.*90G>A
NM_006846.4(SPINK5):c.1039G>C (p.Ala347Pro)
NM_006846.4(SPINK5):c.1055G>T (p.Arg352Ile)
NM_006846.4(SPINK5):c.1072G>A (p.Gly358Arg)
NM_006846.4(SPINK5):c.1078G>A (p.Ala360Thr)
NM_006846.4(SPINK5):c.1084T>A (p.Ser362Thr)
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg)
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183
NM_006846.4(SPINK5):c.1205T>C (p.Met402Thr)
NM_006846.4(SPINK5):c.1216TTC[1] (p.Phe407del)
NM_006846.4(SPINK5):c.1221-5T>C
NM_006846.4(SPINK5):c.1221C>T (p.Phe407=)
NM_006846.4(SPINK5):c.122A>C (p.Lys41Thr)
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg)
NM_006846.4(SPINK5):c.1342C>T (p.Arg448Trp)
NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile)
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn)
NM_006846.4(SPINK5):c.1386T>A (p.Asp462Glu)
NM_006846.4(SPINK5):c.1438GAA[1] (p.Glu481del)
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753
NM_006846.4(SPINK5):c.1498C>T (p.Arg500Trp)
NM_006846.4(SPINK5):c.1525A>G (p.Ile509Val)
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn)
NM_006846.4(SPINK5):c.1546C>T (p.Pro516Ser)
NM_006846.4(SPINK5):c.1602T>A (p.Ser534Arg)
NM_006846.4(SPINK5):c.1607+5G>A
NM_006846.4(SPINK5):c.1617AGA[4] (p.Glu542dup)
NM_006846.4(SPINK5):c.1642GAA[1] (p.Glu549del)
NM_006846.4(SPINK5):c.1681G>A (p.Glu561Lys)
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly)
NM_006846.4(SPINK5):c.1702A>G (p.Ser568Gly)
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) rs201674667
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg)
NM_006846.4(SPINK5):c.1754A>C (p.Asn585Thr)
NM_006846.4(SPINK5):c.1772T>C (p.Leu591Pro)
NM_006846.4(SPINK5):c.1774G>C (p.Asp592His)
NM_006846.4(SPINK5):c.178A>G (p.Ile60Val)
NM_006846.4(SPINK5):c.182A>G (p.Asn61Ser)
NM_006846.4(SPINK5):c.1832C>T (p.Ala611Val)
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn)
NM_006846.4(SPINK5):c.1903T>C (p.Phe635Leu)
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro)
NM_006846.4(SPINK5):c.1955C>T (p.Pro652Leu)
NM_006846.4(SPINK5):c.1961G>A (p.Arg654His)
NM_006846.4(SPINK5):c.19T>C (p.Ser7Pro)
NM_006846.4(SPINK5):c.2072C>T (p.Ala691Val)
NM_006846.4(SPINK5):c.209+3G>A
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile)
NM_006846.4(SPINK5):c.211G>A (p.Glu71Lys)
NM_006846.4(SPINK5):c.2138A>T (p.Gln713Leu)
NM_006846.4(SPINK5):c.2162G>A (p.Cys721Tyr)
NM_006846.4(SPINK5):c.2167C>T (p.Arg723Trp)
NM_006846.4(SPINK5):c.2208CAA[1] (p.Asn738del) rs781321238
NM_006846.4(SPINK5):c.2209A>G (p.Asn737Asp)
NM_006846.4(SPINK5):c.2261A>G (p.Lys754Arg)
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile)
NM_006846.4(SPINK5):c.2369G>A (p.Arg790Gln)
NM_006846.4(SPINK5):c.2372A>C (p.Glu791Ala)
NM_006846.4(SPINK5):c.2383G>A (p.Val795Ile)
NM_006846.4(SPINK5):c.2386C>T (p.Arg796Trp)
NM_006846.4(SPINK5):c.2390G>T (p.Gly797Val)
NM_006846.4(SPINK5):c.2426T>C (p.Met809Thr)
NM_006846.4(SPINK5):c.2447G>A (p.Arg816Lys)
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006846.4(SPINK5):c.2548C>T (p.Arg850Cys)
NM_006846.4(SPINK5):c.2594G>C (p.Arg865Thr)
NM_006846.4(SPINK5):c.2651T>C (p.Met884Thr)
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile)
NM_006846.4(SPINK5):c.2666+5G>A
NM_006846.4(SPINK5):c.2672G>A (p.Arg891Gln)
NM_006846.4(SPINK5):c.2678C>G (p.Ala893Gly)
NM_006846.4(SPINK5):c.2697A>C (p.Lys899Asn)
NM_006846.4(SPINK5):c.2721G>C (p.Lys907Asn)
NM_006846.4(SPINK5):c.2740-127_2740-126del rs797045108
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr)
NM_006846.4(SPINK5):c.274C>G (p.Pro92Ala)
NM_006846.4(SPINK5):c.2759G>A (p.Arg920Gln)
NM_006846.4(SPINK5):c.2759G>C (p.Arg920Pro)
NM_006846.4(SPINK5):c.2782C>A (p.Leu928Ile)
NM_006846.4(SPINK5):c.2825G>A (p.Gly942Glu)
NM_006846.4(SPINK5):c.2837C>T (p.Thr946Ile)
NM_006846.4(SPINK5):c.2849A>G (p.Tyr950Cys)
NM_006846.4(SPINK5):c.2964+14T>G
NM_006846.4(SPINK5):c.3003G>C (p.Arg1001Ser)
NM_006846.4(SPINK5):c.3028T>G (p.Leu1010Val)
NM_006846.4(SPINK5):c.3034C>T (p.Pro1012Ser)
NM_006846.4(SPINK5):c.3035C>T (p.Pro1012Leu)
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser)
NM_006846.4(SPINK5):c.3049G>A (p.Asp1017Asn)
NM_006846.4(SPINK5):c.3066C>A (p.Asn1022Lys)
NM_006846.4(SPINK5):c.3166G>A (p.Ala1056Thr)
NM_006846.4(SPINK5):c.3172A>G (p.Ser1058Gly)
NM_006846.4(SPINK5):c.317A>T (p.Asp106Val)
NM_006846.4(SPINK5):c.3186+9A>G
NM_006846.4(SPINK5):c.3190G>A (p.Glu1064Lys)
NM_006846.4(SPINK5):c.359G>A (p.Gly120Asp)
NM_006846.4(SPINK5):c.382A>T (p.Asn128Tyr)
NM_006846.4(SPINK5):c.426A>C (p.Gln142His)
NM_006846.4(SPINK5):c.452G>A (p.Cys151Tyr)
NM_006846.4(SPINK5):c.464A>G (p.Asn155Ser)
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084
NM_006846.4(SPINK5):c.493C>A (p.Arg165=)
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp)
NM_006846.4(SPINK5):c.523T>G (p.Cys175Gly)
NM_006846.4(SPINK5):c.535A>G (p.Asn179Asp)
NM_006846.4(SPINK5):c.586A>G (p.Met196Val)
NM_006846.4(SPINK5):c.587T>C (p.Met196Thr)
NM_006846.4(SPINK5):c.588G>C (p.Met196Ile)
NM_006846.4(SPINK5):c.628C>A (p.Arg210=)
NM_006846.4(SPINK5):c.631G>A (p.Glu211Lys)
NM_006846.4(SPINK5):c.652C>G (p.Arg218Gly)
NM_006846.4(SPINK5):c.655A>G (p.Asn219Asp)
NM_006846.4(SPINK5):c.666G>T (p.Lys222Asn)
NM_006846.4(SPINK5):c.719C>G (p.Thr240Arg)
NM_006846.4(SPINK5):c.745C>T (p.Pro249Ser)
NM_006846.4(SPINK5):c.781T>G (p.Cys261Gly)
NM_006846.4(SPINK5):c.788A>C (p.Glu263Ala)
NM_006846.4(SPINK5):c.80A>G (p.Gln27Arg)
NM_006846.4(SPINK5):c.81+3T>C
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe)
NM_006846.4(SPINK5):c.85A>G (p.Met29Val)
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn)
NM_006846.4(SPINK5):c.886C>G (p.Leu296Val)
NM_006846.4(SPINK5):c.893G>A (p.Ser298Asn)
NM_006846.4(SPINK5):c.917A>G (p.Asn306Ser)
NM_006846.4(SPINK5):c.962C>T (p.Pro321Leu)
NM_006846.4(SPINK5):c.999T>G (p.Cys333Trp)

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.