ClinVar Miner

List of variants in gene SRCAP reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.306+4C>T rs58723456 0.02136
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=) rs79597785 0.01517
NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=) rs34734612 0.00864
NM_006662.3(SRCAP):c.4596A>C (p.Ser1532=) rs114204931 0.00331
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=) rs61746613 0.00260
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=) rs149043190 0.00256
NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=) rs142948420 0.00220
NM_006662.3(SRCAP):c.8454C>T (p.Pro2818=) rs140511721 0.00185
NM_006662.3(SRCAP):c.8755C>T (p.Leu2919Phe) rs149217909 0.00130
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro) rs202000509 0.00121
NM_006662.3(SRCAP):c.5403C>T (p.Ala1801=) rs140196853 0.00105
NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn) rs142242633 0.00093
NM_006662.3(SRCAP):c.8982C>G (p.Thr2994=) rs150765091 0.00074
NM_006662.3(SRCAP):c.1134+6G>C rs143387966 0.00067
NM_006662.3(SRCAP):c.307-7T>C rs201397245 0.00059
NM_006662.3(SRCAP):c.9229C>A (p.Arg3077=) rs143133981 0.00059
NM_006662.3(SRCAP):c.633+9T>C rs150267250 0.00046
NM_006662.3(SRCAP):c.8676T>G (p.Ala2892=) rs140675498 0.00039
NM_006662.3(SRCAP):c.9562C>T (p.Arg3188Cys) rs201133838 0.00038
NM_006662.3(SRCAP):c.8515G>A (p.Gly2839Ser) rs139886717 0.00034
NM_006662.3(SRCAP):c.492+11C>T rs192794742 0.00033
NM_006662.3(SRCAP):c.7850C>T (p.Pro2617Leu) rs201670251 0.00032
NM_006662.3(SRCAP):c.8406C>T (p.Ser2802=) rs147473528 0.00032
NM_006662.3(SRCAP):c.6501C>T (p.Ile2167=) rs202092944 0.00031
NM_006662.3(SRCAP):c.8373G>A (p.Pro2791=) rs150187491 0.00030
NM_006662.3(SRCAP):c.8893C>T (p.Arg2965Trp) rs141497857 0.00030
NM_006662.3(SRCAP):c.2655C>A (p.Gly885=) rs144028938 0.00026
NM_006662.3(SRCAP):c.9253A>G (p.Met3085Val) rs369935740 0.00024
NM_006662.3(SRCAP):c.2883C>T (p.Asp961=) rs141067629 0.00022
NM_006662.3(SRCAP):c.1135-14C>T rs534965827 0.00019
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly) rs139524110 0.00019
NM_006662.3(SRCAP):c.8387T>C (p.Met2796Thr) rs143103128 0.00017
NM_006662.3(SRCAP):c.3519C>T (p.Pro1173=) rs368322185 0.00016
NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val) rs201583296 0.00014
NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe) rs777744269 0.00014
NM_006662.3(SRCAP):c.492+12G>A rs200528955 0.00014
NM_006662.3(SRCAP):c.7536A>C (p.Thr2512=) rs777936953 0.00014
NM_006662.3(SRCAP):c.2651C>T (p.Thr884Ile) rs748447295 0.00013
NM_006662.3(SRCAP):c.2897G>A (p.Arg966Gln) rs186883352 0.00012
NM_006662.3(SRCAP):c.8760A>G (p.Gly2920=) rs199928454 0.00011
NM_006662.3(SRCAP):c.8798C>T (p.Pro2933Leu) rs368577129 0.00011
NM_006662.3(SRCAP):c.3183T>C (p.Ile1061=) rs1312053021 0.00009
NM_006662.3(SRCAP):c.4170C>T (p.Pro1390=) rs769774517 0.00009
NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met) rs201837401 0.00009
NM_006662.3(SRCAP):c.7777C>T (p.Leu2593=) rs200333706 0.00009
NM_006662.3(SRCAP):c.3542-5T>C rs141077295 0.00008
NM_006662.3(SRCAP):c.5404G>A (p.Ala1802Thr) rs978664247 0.00008
NM_006662.3(SRCAP):c.3481G>A (p.Ala1161Thr) rs374725943 0.00007
NM_006662.3(SRCAP):c.4872A>G (p.Ser1624=) rs377094082 0.00007
NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp) rs74015039 0.00007
NM_006662.3(SRCAP):c.1614C>T (p.Ser538=) rs374756213 0.00006
NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp) rs556230791 0.00006
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) rs200175704 0.00006
NM_006662.3(SRCAP):c.5322G>A (p.Ser1774=) rs773168431 0.00006
NM_006662.3(SRCAP):c.5658+15C>T rs775744605 0.00006
NM_006662.3(SRCAP):c.8508T>G (p.Thr2836=) rs758398423 0.00006
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala) rs200083101 0.00005
NM_006662.3(SRCAP):c.5477C>T (p.Ser1826Leu) rs374858506 0.00005
NM_006662.3(SRCAP):c.1350G>A (p.Gln450=) rs146916680 0.00004
NM_006662.3(SRCAP):c.2559C>T (p.Tyr853=) rs769009513 0.00004
NM_006662.3(SRCAP):c.4680G>A (p.Pro1560=) rs146141702 0.00004
NM_006662.3(SRCAP):c.492+3A>G rs766539368 0.00004
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu) rs183497403 0.00004
NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe) rs376510159 0.00004
NM_006662.3(SRCAP):c.8535C>T (p.Asp2845=) rs778040460 0.00004
NM_006662.3(SRCAP):c.8958T>C (p.Thr2986=) rs368889629 0.00004
NM_006662.3(SRCAP):c.9497A>T (p.Glu3166Val) rs530672259 0.00004
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala) rs181190579 0.00003
NM_006662.3(SRCAP):c.5340G>C (p.Leu1780=) rs1028599771 0.00003
NM_006662.3(SRCAP):c.5478G>C (p.Ser1826=) rs754115748 0.00003
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala) rs138111804 0.00003
NM_006662.3(SRCAP):c.2328T>C (p.Thr776=) rs368981651 0.00002
NM_006662.3(SRCAP):c.3168C>T (p.Ala1056=) rs765152833 0.00002
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp) rs531238169 0.00002
NM_006662.3(SRCAP):c.7352C>T (p.Pro2451Leu) rs759342420 0.00002
NM_006662.3(SRCAP):c.1279G>A (p.Val427Met) rs140083344 0.00001
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His) rs771334638 0.00001
NM_006662.3(SRCAP):c.2130+6A>T rs894326862 0.00001
NM_006662.3(SRCAP):c.2402G>A (p.Arg801His) rs1368368027 0.00001
NM_006662.3(SRCAP):c.278A>G (p.His93Arg) rs555507140 0.00001
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val) rs767714019 0.00001
NM_006662.3(SRCAP):c.3513A>G (p.Leu1171=) rs147309641 0.00001
NM_006662.3(SRCAP):c.3587G>A (p.Arg1196His) rs754130604 0.00001
NM_006662.3(SRCAP):c.4723C>T (p.Pro1575Ser) rs143556666 0.00001
NM_006662.3(SRCAP):c.5150C>T (p.Ser1717Leu) rs1402428342 0.00001
NM_006662.3(SRCAP):c.6050G>A (p.Arg2017Gln) rs754274438 0.00001
NM_006662.3(SRCAP):c.6157C>T (p.Arg2053Trp) rs371915992 0.00001
NM_006662.3(SRCAP):c.8414T>C (p.Ile2805Thr) rs753836409 0.00001
NM_006662.3(SRCAP):c.8693C>G (p.Pro2898Arg) rs770109840 0.00001
NM_006662.3(SRCAP):c.9193C>T (p.Arg3065Cys) rs760273993 0.00001
NM_006662.3(SRCAP):c.9690G>A (p.Thr3230=) rs973709922 0.00001
NM_006662.3(SRCAP):c.1220A>T (p.Glu407Val) rs781392583
NM_006662.3(SRCAP):c.1278G>A (p.Glu426=) rs780939002
NM_006662.3(SRCAP):c.1493-8C>A rs184337406
NM_006662.3(SRCAP):c.1878A>G (p.Leu626=) rs1596647814
NM_006662.3(SRCAP):c.189C>A (p.Pro63=) rs79656879
NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp) rs760183638
NM_006662.3(SRCAP):c.2956C>T (p.Arg986Trp) rs2052998876
NM_006662.3(SRCAP):c.3025G>C (p.Val1009Leu) rs982570410
NM_006662.3(SRCAP):c.4088C>G (p.Ala1363Gly) rs372507463
NM_006662.3(SRCAP):c.4243A>C (p.Met1415Leu) rs140379834
NM_006662.3(SRCAP):c.4471C>T (p.Pro1491Ser) rs780593546
NM_006662.3(SRCAP):c.5216C>T (p.Pro1739Leu) rs757626317
NM_006662.3(SRCAP):c.5850_5851insATT (p.Thr1950_Tyr1951insIle) rs767382265
NM_006662.3(SRCAP):c.6495-5C>G rs189024516
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu) rs2053173193
NM_006662.3(SRCAP):c.7722CTC[1] (p.Ser2576del) rs797046007

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.