ClinVar Miner

List of variants reported as likely benign for Cutis laxa, autosomal recessive, type 1B

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ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=) rs2234457 0.00375
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=) rs144817331 0.00057
NM_016938.5(EFEMP2):c.570G>A (p.Pro190=) rs145853251 0.00048
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) rs140946753 0.00045
NM_016938.5(EFEMP2):c.1170+17C>T rs200146991 0.00043
NM_016938.5(EFEMP2):c.1026C>T (p.Ser342=) rs2234471 0.00022
NM_016938.5(EFEMP2):c.810A>G (p.Pro270=) rs150546623 0.00017
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu) rs148315164 0.00015
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=) rs369627072 0.00014
NM_016938.5(EFEMP2):c.1101C>T (p.Ser367=) rs112355691 0.00012
NM_016938.5(EFEMP2):c.975-11G>A rs376275864 0.00011
NM_016938.5(EFEMP2):c.531C>T (p.Cys177=) rs762305922 0.00009
NM_016938.5(EFEMP2):c.882C>T (p.Cys294=) rs371712739 0.00009
NM_016938.5(EFEMP2):c.727+11C>T rs369000940 0.00007
NM_016938.5(EFEMP2):c.847+13C>T rs762497696 0.00007
NM_016938.5(EFEMP2):c.975-15C>T rs768211662 0.00007
NM_016938.5(EFEMP2):c.1056G>A (p.Ser352=) rs769127200 0.00006
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) rs746343857 0.00006
NM_016938.5(EFEMP2):c.864G>A (p.Glu288=) rs759514025 0.00006
NM_016938.5(EFEMP2):c.111+17C>G rs768070943 0.00005
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=) rs779614307 0.00005
NM_016938.5(EFEMP2):c.498C>T (p.Asp166=) rs757273990 0.00005
NM_016938.5(EFEMP2):c.607+10G>T rs774887200 0.00005
NM_016938.5(EFEMP2):c.1110C>T (p.Pro370=) rs146180527 0.00004
NM_016938.5(EFEMP2):c.1182C>T (p.Asn394=) rs1466076983 0.00004
NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=) rs148302546 0.00004
NM_016938.5(EFEMP2):c.12C>T (p.Cys4=) rs1196692310 0.00004
NM_016938.5(EFEMP2):c.267C>T (p.Asn89=) rs572217864 0.00004
NM_016938.5(EFEMP2):c.273A>G (p.Leu91=) rs770791862 0.00004
NM_016938.5(EFEMP2):c.34C>T (p.Leu12=) rs990066080 0.00004
NM_016938.5(EFEMP2):c.396C>T (p.His132=) rs545330660 0.00004
NM_016938.5(EFEMP2):c.783G>A (p.Glu261=) rs779131358 0.00004
NM_016938.5(EFEMP2):c.974+12C>T rs772378278 0.00004
NM_016938.5(EFEMP2):c.873G>A (p.Ala291=) rs140784880 0.00003
NM_016938.5(EFEMP2):c.1203C>T (p.Leu401=) rs374950957 0.00002
NM_016938.5(EFEMP2):c.160+8T>C rs1441745834 0.00002
NM_016938.5(EFEMP2):c.368-5C>T rs201248112 0.00002
NM_016938.5(EFEMP2):c.375C>T (p.Asp125=) rs758495680 0.00002
NM_016938.5(EFEMP2):c.54A>G (p.Leu18=) rs367928701 0.00002
NM_016938.5(EFEMP2):c.1003C>T (p.Leu335=) rs765442560 0.00001
NM_016938.5(EFEMP2):c.112-4C>A rs900644594 0.00001
NM_016938.5(EFEMP2):c.1207C>A (p.Arg403=) rs765684268 0.00001
NM_016938.5(EFEMP2):c.1221C>A (p.Gly407=) rs767083801 0.00001
NM_016938.5(EFEMP2):c.1305C>T (p.Thr435=) rs1260193001 0.00001
NM_016938.5(EFEMP2):c.186T>C (p.Pro62=) rs745699648 0.00001
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=) rs928050535 0.00001
NM_016938.5(EFEMP2):c.252C>T (p.Ser84=) rs767033176 0.00001
NM_016938.5(EFEMP2):c.423T>C (p.His141=) rs1314192173 0.00001
NM_016938.5(EFEMP2):c.600C>A (p.Ser200=) rs1032092509 0.00001
NM_016938.5(EFEMP2):c.607+18C>A rs571631117 0.00001
NM_016938.5(EFEMP2):c.615C>T (p.Asn205=) rs760174107 0.00001
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=) rs199606204 0.00001
NM_016938.5(EFEMP2):c.651C>T (p.Cys217=) rs765884191 0.00001
NM_016938.5(EFEMP2):c.657C>T (p.Asn219=) rs1372273571 0.00001
NM_016938.5(EFEMP2):c.699G>A (p.Glu233=) rs1206569334 0.00001
NM_016938.5(EFEMP2):c.741T>C (p.Cys247=) rs1200560839 0.00001
NM_016938.5(EFEMP2):c.756C>T (p.Tyr252=) rs1391116927 0.00001
NM_016938.5(EFEMP2):c.768C>T (p.Tyr256=) rs1591066103 0.00001
NM_016938.5(EFEMP2):c.847+20G>A rs759195625 0.00001
NM_016938.5(EFEMP2):c.848-11C>T rs776698728 0.00001
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=) rs766494495 0.00001
NM_016938.5(EFEMP2):c.1011A>G (p.Arg337=) rs2134746954
NM_016938.5(EFEMP2):c.1014G>A (p.Glu338=) rs2134746942
NM_016938.5(EFEMP2):c.1050C>T (p.Ile350=)
NM_016938.5(EFEMP2):c.1065C>T (p.Ser355=)
NM_016938.5(EFEMP2):c.1071C>T (p.Pro357=)
NM_016938.5(EFEMP2):c.1077C>T (p.Asp359=) rs758240045
NM_016938.5(EFEMP2):c.1080G>C (p.Val360=)
NM_016938.5(EFEMP2):c.1083C>T (p.Phe361=)
NM_016938.5(EFEMP2):c.1092G>A (p.Gln364=)
NM_016938.5(EFEMP2):c.111+18C>G
NM_016938.5(EFEMP2):c.111+18C>T
NM_016938.5(EFEMP2):c.111+19G>A
NM_016938.5(EFEMP2):c.1110C>G (p.Pro370=)
NM_016938.5(EFEMP2):c.1149G>A (p.Ser383=)
NM_016938.5(EFEMP2):c.1161T>C (p.Phe387=) rs1859884972
NM_016938.5(EFEMP2):c.1167T>C (p.Ile389=)
NM_016938.5(EFEMP2):c.1170+11T>C
NM_016938.5(EFEMP2):c.1170+12G>A
NM_016938.5(EFEMP2):c.1170+13C>T rs2134746467
NM_016938.5(EFEMP2):c.1171-11C>T
NM_016938.5(EFEMP2):c.1171-14C>T
NM_016938.5(EFEMP2):c.1171-19C>T rs543697634
NM_016938.5(EFEMP2):c.1171-7C>T
NM_016938.5(EFEMP2):c.1171-9G>A
NM_016938.5(EFEMP2):c.1203C>A (p.Leu401=)
NM_016938.5(EFEMP2):c.1218G>A (p.Thr406=)
NM_016938.5(EFEMP2):c.1218G>T (p.Thr406=)
NM_016938.5(EFEMP2):c.1233C>T (p.Tyr411=)
NM_016938.5(EFEMP2):c.1236G>A (p.Val412=)
NM_016938.5(EFEMP2):c.1248G>A (p.Glu416=)
NM_016938.5(EFEMP2):c.129T>C (p.Tyr43=)
NM_016938.5(EFEMP2):c.1302C>A (p.Leu434=)
NM_016938.5(EFEMP2):c.1302C>T (p.Leu434=)
NM_016938.5(EFEMP2):c.1305C>G (p.Thr435=) rs1260193001
NM_016938.5(EFEMP2):c.160+14G>T
NM_016938.5(EFEMP2):c.160+17G>A
NM_016938.5(EFEMP2):c.160+17G>T rs1274496096
NM_016938.5(EFEMP2):c.160+20C>T rs1859971594
NM_016938.5(EFEMP2):c.160+7G>T
NM_016938.5(EFEMP2):c.161-13C>A rs771655821
NM_016938.5(EFEMP2):c.161-6C>T
NM_016938.5(EFEMP2):c.165C>G (p.Val55=)
NM_016938.5(EFEMP2):c.168C>T (p.Asn56=) rs367732454
NM_016938.5(EFEMP2):c.180C>A (p.Thr60=) rs780024554
NM_016938.5(EFEMP2):c.180C>T (p.Thr60=)
NM_016938.5(EFEMP2):c.183C>T (p.Ile61=) rs1591067866
NM_016938.5(EFEMP2):c.18C>T (p.Ser6=)
NM_016938.5(EFEMP2):c.204A>G (p.Glu68=)
NM_016938.5(EFEMP2):c.225C>T (p.Tyr75=)
NM_016938.5(EFEMP2):c.234C>T (p.Tyr78=) rs2134752225
NM_016938.5(EFEMP2):c.258C>G (p.Ala86=) rs143873931
NM_016938.5(EFEMP2):c.258C>T (p.Ala86=) rs143873931
NM_016938.5(EFEMP2):c.264C>T (p.Ile88=)
NM_016938.5(EFEMP2):c.270C>T (p.Asp90=)
NM_016938.5(EFEMP2):c.291G>A (p.Pro97=)
NM_016938.5(EFEMP2):c.297A>C (p.Pro99=)
NM_016938.5(EFEMP2):c.306C>G (p.Pro102=)
NM_016938.5(EFEMP2):c.30G>A (p.Gly10=)
NM_016938.5(EFEMP2):c.315C>T (p.His105=) rs774020582
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=) rs762409753
NM_016938.5(EFEMP2):c.333A>G (p.Pro111=)
NM_016938.5(EFEMP2):c.345C>G (p.Pro115=)
NM_016938.5(EFEMP2):c.345C>T (p.Pro115=) rs770611350
NM_016938.5(EFEMP2):c.348C>T (p.Asp116=) rs376350227
NM_016938.5(EFEMP2):c.367+13T>C
NM_016938.5(EFEMP2):c.368-13del rs2134751365
NM_016938.5(EFEMP2):c.368-16G>A
NM_016938.5(EFEMP2):c.368-20C>T
NM_016938.5(EFEMP2):c.450C>T (p.Thr150=)
NM_016938.5(EFEMP2):c.48G>T (p.Ala16=)
NM_016938.5(EFEMP2):c.490+16A>G
NM_016938.5(EFEMP2):c.490+8C>T rs2134751112
NM_016938.5(EFEMP2):c.490+9A>T rs1465424178
NM_016938.5(EFEMP2):c.491-15T>C
NM_016938.5(EFEMP2):c.491-4C>G
NM_016938.5(EFEMP2):c.491-6C>T
NM_016938.5(EFEMP2):c.492C>T (p.Asp164=)
NM_016938.5(EFEMP2):c.49C>T (p.Leu17=)
NM_016938.5(EFEMP2):c.513C>T (p.Arg171=)
NM_016938.5(EFEMP2):c.519C>T (p.Cys173=)
NM_016938.5(EFEMP2):c.538C>T (p.Leu180=) rs1859940269
NM_016938.5(EFEMP2):c.543T>C (p.Pro181=)
NM_016938.5(EFEMP2):c.546C>T (p.Gly182=)
NM_016938.5(EFEMP2):c.570G>T (p.Pro190=) rs145853251
NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)
NM_016938.5(EFEMP2):c.607+14G>T
NM_016938.5(EFEMP2):c.607+19A>G
NM_016938.5(EFEMP2):c.608-7C>T
NM_016938.5(EFEMP2):c.609T>C (p.Asp203=)
NM_016938.5(EFEMP2):c.618G>A (p.Glu206=) rs2134750264
NM_016938.5(EFEMP2):c.633C>A (p.Ala211=)
NM_016938.5(EFEMP2):c.636A>G (p.Pro212=)
NM_016938.5(EFEMP2):c.663T>C (p.Tyr221=)
NM_016938.5(EFEMP2):c.6C>A (p.Leu2=) rs1198242126
NM_016938.5(EFEMP2):c.6C>T (p.Leu2=)
NM_016938.5(EFEMP2):c.702G>A (p.Leu234=)
NM_016938.5(EFEMP2):c.711T>C (p.Asp237=)
NM_016938.5(EFEMP2):c.726T>C (p.Ser242=)
NM_016938.5(EFEMP2):c.727+14C>T
NM_016938.5(EFEMP2):c.727+16C>G
NM_016938.5(EFEMP2):c.727+7G>A
NM_016938.5(EFEMP2):c.727+7G>C
NM_016938.5(EFEMP2):c.727+8C>T
NM_016938.5(EFEMP2):c.728-11T>C rs2134748381
NM_016938.5(EFEMP2):c.759C>G (p.Leu253=) rs1555042933
NM_016938.5(EFEMP2):c.774_775inv (p.Ile259Val)
NM_016938.5(EFEMP2):c.792T>C (p.Arg264=)
NM_016938.5(EFEMP2):c.828G>T (p.Leu276=)
NM_016938.5(EFEMP2):c.847+14G>A
NM_016938.5(EFEMP2):c.847+9T>C
NM_016938.5(EFEMP2):c.848-12C>T
NM_016938.5(EFEMP2):c.848-15T>C
NM_016938.5(EFEMP2):c.848-9C>T
NM_016938.5(EFEMP2):c.852T>A (p.Ile284=) rs200285623
NM_016938.5(EFEMP2):c.855T>C (p.Asp285=) rs2134747902
NM_016938.5(EFEMP2):c.912T>C (p.His304=) rs1555042846
NM_016938.5(EFEMP2):c.918C>A (p.Gly306=)
NM_016938.5(EFEMP2):c.933C>T (p.Asp311=)
NM_016938.5(EFEMP2):c.939C>T (p.Asn313=) rs754497556
NM_016938.5(EFEMP2):c.945C>T (p.Cys315=)
NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu) rs113167523
NM_016938.5(EFEMP2):c.969T>C (p.Ser323=)
NM_016938.5(EFEMP2):c.974+7C>T rs371085261
NM_016938.5(EFEMP2):c.975-12C>T
NM_016938.5(EFEMP2):c.975-20C>T
NM_016938.5(EFEMP2):c.999C>T (p.Asn333=)
NM_016938.5(EFEMP2):c.9C>A (p.Pro3=)

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