ClinVar Miner

List of variants in gene SRCAP reported as likely benign for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=) rs34734612 0.00864
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly) rs117480926 0.00402
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.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.5598_5600del (p.Phe1867del) rs565950672 0.00039
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.8387T>C (p.Met2796Thr) rs143103128 0.00017
NM_006662.3(SRCAP):c.3519C>T (p.Pro1173=) rs368322185 0.00016
NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg) rs146421389 0.00015
NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val) rs201583296 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.8760A>G (p.Gly2920=) rs199928454 0.00011
NM_006662.3(SRCAP):c.*243C>T rs577624873 0.00010
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.4872A>G (p.Ser1624=) rs377094082 0.00007
NM_006662.3(SRCAP):c.1614C>T (p.Ser538=) rs374756213 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.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.8535C>T (p.Asp2845=) rs778040460 0.00004
NM_006662.3(SRCAP):c.8958T>C (p.Thr2986=) rs368889629 0.00004
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.2328T>C (p.Thr776=) rs368981651 0.00002
NM_006662.3(SRCAP):c.3168C>T (p.Ala1056=) rs765152833 0.00002
NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp) rs556230791 0.00002
NM_006662.3(SRCAP):c.3513A>G (p.Leu1171=) rs147309641 0.00001
NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu) rs587784444 0.00001
NM_006662.3(SRCAP):c.9690G>A (p.Thr3230=) rs973709922 0.00001
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.2752A>C (p.Thr918Pro) rs756223991
NM_006662.3(SRCAP):c.3547G>A (p.Glu1183Lys)
NM_006662.3(SRCAP):c.4088C>G (p.Ala1363Gly) rs372507463
NM_006662.3(SRCAP):c.6495-5C>G rs189024516
NM_006662.3(SRCAP):c.955C>T (p.Arg319Cys)

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