ClinVar Miner

List of variants reported as likely benign for Norman-Roberts syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
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HGVS dbSNP
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726
NM_005045.4(RELN):c.10020G>A (p.Ser3340=) rs760919496
NM_005045.4(RELN):c.10108A>G (p.Thr3370Ala) rs570807790
NM_005045.4(RELN):c.10275C>T (p.Val3425=)
NM_005045.4(RELN):c.10276G>A (p.Val3426Ile) rs188371196
NM_005045.4(RELN):c.1035A>G (p.Leu345=) rs113998363
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366
NM_005045.4(RELN):c.1344C>G (p.Gly448=) rs144150588
NM_005045.4(RELN):c.1386C>T (p.Cys462=) rs139321058
NM_005045.4(RELN):c.1416G>A (p.Gly472=)
NM_005045.4(RELN):c.1555G>T (p.Val519Phe) rs560704715
NM_005045.4(RELN):c.1746G>T (p.Thr582=)
NM_005045.4(RELN):c.2016G>A (p.Pro672=) rs146749232
NM_005045.4(RELN):c.227-7A>G
NM_005045.4(RELN):c.2304-6G>T
NM_005045.4(RELN):c.2352G>A (p.Thr784=) rs148510862
NM_005045.4(RELN):c.2376T>C (p.Gly792=) rs398124191
NM_005045.4(RELN):c.2532G>A (p.Pro844=) rs113842330
NM_005045.4(RELN):c.2637C>T (p.Val879=) rs544717229
NM_005045.4(RELN):c.2754A>G (p.Gln918=) rs114620008
NM_005045.4(RELN):c.2827C>T (p.His943Tyr) rs190615928
NM_005045.4(RELN):c.3009-10G>A rs140358876
NM_005045.4(RELN):c.3147-4A>G rs375230548
NM_005045.4(RELN):c.3198G>A (p.Pro1066=)
NM_005045.4(RELN):c.3282A>G (p.Pro1094=)
NM_005045.4(RELN):c.3333+8C>T
NM_005045.4(RELN):c.3351G>C (p.Leu1117=)
NM_005045.4(RELN):c.3411C>T (p.Gly1137=) rs137974322
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.4(RELN):c.3483G>A (p.Gly1161=) rs1254504314
NM_005045.4(RELN):c.3642C>T (p.Val1214=) rs151252449
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005045.4(RELN):c.3663C>T (p.Ser1221=) rs199705497
NM_005045.4(RELN):c.3786A>G (p.Gly1262=) rs577453361
NM_005045.4(RELN):c.37C>T (p.Leu13=)
NM_005045.4(RELN):c.3891T>A (p.Pro1297=) rs145600583
NM_005045.4(RELN):c.3913-10C>T
NM_005045.4(RELN):c.3913-9T>C rs372473867
NM_005045.4(RELN):c.3913-9dup
NM_005045.4(RELN):c.408G>C (p.Leu136=) rs1554427416
NM_005045.4(RELN):c.4191C>T (p.Asn1397=) rs544646610
NM_005045.4(RELN):c.4230G>A (p.Glu1410=) rs184601053
NM_005045.4(RELN):c.4275A>G (p.Gly1425=)
NM_005045.4(RELN):c.4320T>C (p.Cys1440=)
NM_005045.4(RELN):c.4434C>G (p.Asn1478Lys) rs375118721
NM_005045.4(RELN):c.4497C>T (p.Asp1499=)
NM_005045.4(RELN):c.4512-5C>T rs776406996
NM_005045.4(RELN):c.4689C>T (p.Asp1563=)
NM_005045.4(RELN):c.4701C>T (p.Asp1567=) rs755634872
NM_005045.4(RELN):c.4720G>A (p.Ala1574Thr) rs78480723
NM_005045.4(RELN):c.474-7T>C rs55693709
NM_005045.4(RELN):c.4872A>G (p.Gln1624=) rs149121159
NM_005045.4(RELN):c.4937-9_4937-8insG
NM_005045.4(RELN):c.5013C>A (p.Gly1671=)
NM_005045.4(RELN):c.5016T>C (p.Cys1672=) rs983510937
NM_005045.4(RELN):c.5136G>A (p.Thr1712=) rs147933593
NM_005045.4(RELN):c.5145A>G (p.Ser1715=) rs113229231
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800
NM_005045.4(RELN):c.5220G>A (p.Arg1740=)
NM_005045.4(RELN):c.5274G>T (p.Ala1758=) rs139102992
NM_005045.4(RELN):c.5352-9C>G rs758405612
NM_005045.4(RELN):c.5406G>A (p.Ser1802=)
NM_005045.4(RELN):c.5529+10A>T rs371510474
NM_005045.4(RELN):c.5599A>C (p.Arg1867=) rs753376558
NM_005045.4(RELN):c.5643G>A (p.Leu1881=) rs141387255
NM_005045.4(RELN):c.5730T>C (p.Asn1910=)
NM_005045.4(RELN):c.577+9T>C rs750186579
NM_005045.4(RELN):c.5796C>T (p.Asn1932=) rs200299096
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343
NM_005045.4(RELN):c.5934C>T (p.Ile1978=)
NM_005045.4(RELN):c.5970-7G>A
NM_005045.4(RELN):c.6072+7G>T rs777197865
NM_005045.4(RELN):c.6117G>A (p.Val2039=)
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241
NM_005045.4(RELN):c.6147G>A (p.Ala2049=) rs116750302
NM_005045.4(RELN):c.6213C>T (p.Thr2071=) rs554215103
NM_005045.4(RELN):c.6240C>T (p.Tyr2080=) rs201505136
NM_005045.4(RELN):c.6303-9C>T rs200658237
NM_005045.4(RELN):c.6429C>T (p.Ile2143=) rs1554374836
NM_005045.4(RELN):c.6553A>T (p.Met2185Leu) rs114686696
NM_005045.4(RELN):c.6624T>C (p.Asp2208=)
NM_005045.4(RELN):c.6672-10C>A
NM_005045.4(RELN):c.6759C>T (p.Asn2253=)
NM_005045.4(RELN):c.6771G>A (p.Ser2257=)
NM_005045.4(RELN):c.6939T>C (p.Ile2313=) rs113498433
NM_005045.4(RELN):c.6962C>T (p.Thr2321Met) rs116065504
NM_005045.4(RELN):c.7107C>T (p.Asp2369=) rs114339919
NM_005045.4(RELN):c.7128C>G (p.Ser2376=) rs116057819
NM_005045.4(RELN):c.7180+8T>C rs1022021889
NM_005045.4(RELN):c.7197C>T (p.Tyr2399=)
NM_005045.4(RELN):c.7287C>A (p.Ile2429=) rs915583909
NM_005045.4(RELN):c.7635C>T (p.Ala2545=)
NM_005045.4(RELN):c.7641G>A (p.Ala2547=)
NM_005045.4(RELN):c.7644G>A (p.Ser2548=) rs150743664
NM_005045.4(RELN):c.7713T>C (p.Asn2571=) rs1359170573
NM_005045.4(RELN):c.77C>T (p.Ala26Val) rs144557847
NM_005045.4(RELN):c.7938C>T (p.Asp2646=)
NM_005045.4(RELN):c.8004C>T (p.Thr2668=) rs368087558
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673
NM_005045.4(RELN):c.8028C>T (p.Ser2676=) rs777057396
NM_005045.4(RELN):c.807G>T (p.Gly269=)
NM_005045.4(RELN):c.8445G>A (p.Gly2815=)
NM_005045.4(RELN):c.8490-4A>G
NM_005045.4(RELN):c.8625G>A (p.Pro2875=) rs190273964
NM_005045.4(RELN):c.877G>A (p.Asp293Asn) rs200289289
NM_005045.4(RELN):c.8843+3A>C rs200124755
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042
NM_005045.4(RELN):c.8950+9C>T
NM_005045.4(RELN):c.8951-11_8951-8dup rs1554364085
NM_005045.4(RELN):c.9105G>A (p.Gly3035=) rs1279644782
NM_005045.4(RELN):c.9172T>C (p.Leu3058=) rs2286261
NM_005045.4(RELN):c.9222T>C (p.Ser3074=)
NM_005045.4(RELN):c.9370-7G>C
NM_005045.4(RELN):c.9414C>T (p.Ser3138=) rs375427974
NM_005045.4(RELN):c.9633G>A (p.Lys3211=)
NM_005045.4(RELN):c.9726G>C (p.Thr3242=)
NM_005045.4(RELN):c.9729C>T (p.Thr3243=)
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137
NM_005045.4(RELN):c.9975T>G (p.Thr3325=)
NM_005045.4(RELN):c.9984-9G>A rs758320422

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