ClinVar Miner

List of variants reported as benign for autosomal ichthyosis syndrome by Invitae

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP
NC_000005.9:g.147443360G>A
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.526+14T>C rs73777756
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.747+20_747+24del rs199624608
NM_000288.4(PEX7):c.748-16C>T
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000288.4(PEX7):c.748-5dup rs563675060
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001127698.2(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_006846.3(SPINK5):c.1128C>T (p.Asn376=) rs78128189
NM_006846.3(SPINK5):c.119G>C (p.Gly40Ala) rs73269156
NM_006846.3(SPINK5):c.1302+16C>T rs112708641
NM_006846.3(SPINK5):c.1302+19G>A rs2303068
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.1552C>T (p.Arg518Cys) rs115504632
NM_006846.3(SPINK5):c.1605G>T (p.Val535=) rs201831966
NM_006846.3(SPINK5):c.1764T>G (p.Ile588Met) rs35877540
NM_006846.3(SPINK5):c.1851T>C (p.Ala617=) rs17718737
NM_006846.3(SPINK5):c.2061G>A (p.Gln687=) rs36111383
NM_006846.3(SPINK5):c.209+15C>T rs3752677
NM_006846.3(SPINK5):c.2241-6C>T rs190365795
NM_006846.3(SPINK5):c.2382T>C (p.Pro794=) rs188840406
NM_006846.3(SPINK5):c.2442-16A>G rs148657069
NM_006846.3(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445
NM_006846.3(SPINK5):c.2667-4G>A rs180955184
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.2864T>C (p.Val955Ala) rs115820034
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.2965-10G>C rs58888156
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+8C>T rs115366845
NM_006846.3(SPINK5):c.531G>A (p.Arg177=) rs35121983
NM_006846.3(SPINK5):c.882+20A>G rs11958432
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796
NM_006846.4(SPINK5):c.1011-12C>T rs1422991
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071
NM_006846.4(SPINK5):c.2088TGG[2] (p.Gly701del) rs111662216
NM_006846.4(SPINK5):c.2113-18G>A
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397
NM_006846.4(SPINK5):c.2442-3dup
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070
NM_006846.4(SPINK5):c.2667-13A>T rs2052537
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478
NM_006846.4(SPINK5):c.48C>T (p.Leu16=)
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205
NM_014908.3(DOLK):c.1481A>G (p.Asp494Gly) rs145292760
NM_014908.3(DOLK):c.579G>A (p.Glu193=) rs28365522
NM_014908.3(DOLK):c.771C>T (p.Ile257=) rs147416890
NM_014908.3(DOLK):c.873C>T (p.Leu291=) rs148646968
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474
NM_058179.4(PSAT1):c.348G>A (p.Lys116=) rs41277897
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_058179.4(PSAT1):c.696G>A (p.Val232=) rs140331840
NM_058179.4(PSAT1):c.741-18T>A
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852
NM_182760.4(SUMF1):c.128C>T (p.Ala43Val) rs200789939
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590
NM_182760.4(SUMF1):c.59T>G (p.Leu20Arg) rs79985808
NM_182760.4(SUMF1):c.602+13C>T rs80204284
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221
NM_182760.4(SUMF1):c.841-14G>A rs9852367
NM_182760.4(SUMF1):c.954+7A>G rs560003466
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940

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.